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information | What is (are) Proud syndrome ? | Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Proud syndrome ? | What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. cryptorchidism, hypospadias). Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Proud syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Seizures 90% Short stature 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Coarse facial features 50% Hypertrichosis 50% Nystagmus 50% Scoliosis 50% Strabismus 50% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Hemiplegia/hemiparesis 7.5% Hernia of the abdominal wall 7.5% Renal hypoplasia/aplasia 7.5% Broad alveolar ridges - Cryptorchidism - High palate - Hirsutism - Hyperconvex nail - Hypospadias - Intellectual disability, progressive - Intellectual disability, severe - Large eyes - Limb joint contracture - Low anterior hairline - Neonatal hypotonia - Optic atrophy - Overlapping toe - Prominent supraorbital ridges - Protruding ear - Renal dysplasia - Spastic tetraplegia - Synophrys - Tapered finger - Tetraplegia - Visual impairment - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Proud syndrome ? | What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles). For example, the protein helps regulate the process by which cells mature to carry out specific functions (differentiation) within the pancreas, testes, and muscles. In the developing brain, it plays many different roles such as assisting with the movement of neurons to their final locations. Specific changes in the ARX gene impair the function of the protein, which may disrupt the normal development of many different parts of the body. This can lead to the many signs and symptoms associated with Proud syndrome. |
inheritance | Is Proud syndrome inherited ? | How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. |
treatment | What are the treatments for Proud syndrome ? | How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures. Surgery may be required to treat certain physical abnormalities such as kidney or genital issues. Children with severe intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider. |
symptoms | What are the symptoms of Frias syndrome ? | What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Cryptorchidism 90% Downturned corners of mouth 90% External ear malformation 90% High forehead 90% Muscular hypotonia 90% Optic atrophy 90% Scrotal hypoplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Diabetes insipidus 50% Malar flattening 50% Underdeveloped nasal alae 50% Ventriculomegaly 50% Abnormality of the metacarpal bones 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Delayed skeletal maturation 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Prenatal movement abnormality 7.5% Primary adrenal insufficiency 7.5% Renal hypoplasia/aplasia 7.5% Short toe 7.5% Single transverse palmar crease 7.5% Toe syndactyly 7.5% Cupped ear - Hypertelorism - Posteriorly rotated ears - Proptosis - Ptosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Congenital anosmia ? | Congenital anosmia is a very rare condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome and congenital insensitivity to pain). Scientists suspect that isolated congenital anosmia occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Unfortunately, there is currently no known cure or treatment for congenital anosmia. |
symptoms | What are the symptoms of Congenital anosmia ? | What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anosmia - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Congenital anosmia ? | What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified. |
inheritance | Is Congenital anosmia inherited ? | Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance. |
exams and tests | How to diagnose Congenital anosmia ? | How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no recollection of ever being able to smell, the following tests may be ordered to support a diagnosis of congenital anosmia: A thorough physical examination and medical history to look for other conditions that may interfere with the sense of smell Smell tests, particularly those that determine the smallest amount of odor that someone can detect Brain Imaging (such as CT scan and MRI scan) as some people with congenital anosmia have malformations in the portion of the brian that processes smells Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain |
treatment | What are the treatments for Congenital anosmia ? | How might congenital anosmia be treated? Unfortunately, there is currently no known cure or treatment for congenital anosmia. |
information | What is (are) Alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis. AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner. Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases. |
symptoms | What are the symptoms of Alpha-1 antitrypsin deficiency ? | What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Emphysema 90% Hepatic failure 90% Hepatomegaly 50% Nephrotic syndrome 7.5% Cirrhosis 5% Autosomal recessive inheritance - Chronic obstructive pulmonary disease - Elevated hepatic transaminases - Hepatocellular carcinoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Alpha-1 antitrypsin deficiency ? | What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body fight infections, but it can also attack healthy tissues (especially the lungs) if not controlled by AAT. Mutations that cause AAT can cause a deficiency or absence of AAT, or a form of AAT that does not work well. This allows neutrophil elastase to destroy lung tissue, causing lung disease. In addition, abnormal AAT can build up in the liver and cause damage to the liver. The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals. |
exams and tests | How to diagnose Alpha-1 antitrypsin deficiency ? | How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either: detecting a functionally deficient AAT protein variant by isoelectric focusing (a method for detecting mutations); or detecting SERPINA1 gene mutations on both copies of the gene with molecular genetic testing. (This confirms the diagnosis when the above-mentioned tests are not performed or their results are not in agreement.) Specialists involved in the diagnosis may include primary care doctors, pulmonologists (lung specialists), and/or hepatologists (liver specialists). |
treatment | What are the treatments for Alpha-1 antitrypsin deficiency ? | How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier. Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test). This therapy raises the level of the AAT protein in the blood and lungs. Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease. When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses. All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma). Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants. Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures. |
information | What is (are) Chronic intestinal pseudoobstruction ? | Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms. CIPO can occur in people of any age. It may be primary or secondary. Problems with nerves, muscles, or interstitial cells of Cajal (the cells that set the pace of intestinal contractions) prevent normal contractions and cause problems with the movement of food, fluid, and air through the intestines. Primary or idiopathic (where the cause is unknown) CIPO occurs by itself. Secondary CIPO develops as a complication of another medical condition. Some people with primary CIPO have gain or loss of genetic material in the FLNA gene. The diagnosis of CIPO is clinical and other conditions with similar symptoms should be ruled out. Treatment may include nutritional support, medications, decompression or surgery. Management may require specialists from a variety of backgrounds. |
symptoms | What are the symptoms of Chronic intestinal pseudoobstruction ? | What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intestinal malrotation 50% Morphological abnormality of the central nervous system 50% Pyloric stenosis 50% Abnormality of thrombocytes 7.5% Patent ductus arteriosus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ? | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes (mutations) in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? | What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Edema of the lower limbs 90% Lymphangioma 90% Abnormality of the eye 50% Cutis marmorata 50% Periorbital edema 50% Vaginal hernia 50% Venous insufficiency 50% Abnormality of the peritoneum 7.5% Abnormality of the pleura 7.5% Hydrops fetalis 7.5% Abnormality of the nail - Abnormality of the teeth - Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Autosomal recessive inheritance - Hydrocele testis - Hypotrichosis - Nonimmune hydrops fetalis - Palmar telangiectasia - Predominantly lower limb lymphedema - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? | What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Decreased testosterone in males - Male hypogonadism - Male infertility - Male pseudohermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ? | What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Cognitive impairment 90% Generalized hypopigmentation 90% Microcephaly 90% Ocular albinism 90% Short distal phalanx of finger 90% Albinism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Waardenburg syndrome ? | Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present. |
symptoms | What are the symptoms of Waardenburg syndrome ? | What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the colon 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Intestinal obstruction 7.5% Meningocele 7.5% Myelomeningocele 7.5% Oral cleft 7.5% Ptosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
exams and tests | How to diagnose Waardenburg syndrome ? | How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or "unibrow") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine). |
information | What is (are) ADNP syndrome ? | ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1] |
symptoms | What are the symptoms of ADNP syndrome ? | What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology 5% Seizures 5% Autistic behavior - Cleft eyelid - Feeding difficulties - Hyperactivity - Hypermetropia - Intellectual disability - Joint laxity - Language impairment - Muscular hypotonia - Obesity - Obsessive-compulsive behavior - Prominent forehead - Ptosis - Recurrent infections - Short nose - Short stature - Small hand - Smooth philtrum - Stereotypic behavior - Strabismus - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Marshall-Smith syndrome ? | Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition. |
symptoms | What are the symptoms of Marshall-Smith syndrome ? | What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia. There are often problems with structures in the respiratory tract (such as the larynx and trachea) and this can lead to difficulty with breathing and frequent infections. Pneumonia is common. Severe feeding difficulties may also result. X-rays show advanced bone age and short and conical phalanges (finger and/or toes bones). The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall-Smith syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Anteverted nares 90% Bowing of the long bones 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Hyperextensible skin 90% Joint hypermobility 90% Proptosis 90% Respiratory insufficiency 90% Skeletal dysplasia 90% Slender long bone 90% Thin skin 90% Abnormality of the tongue 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Hypertelorism 50% Hypertrichosis 50% Laryngomalacia 50% Open mouth 50% Recurrent fractures 50% Reduced bone mineral density 50% Scoliosis 50% Short nose 50% Aplasia/Hypoplasia of the cerebellum 7.5% Choanal atresia 7.5% Craniosynostosis 7.5% Gingival overgrowth 7.5% Optic atrophy 7.5% Ventriculomegaly 7.5% Agenesis of corpus callosum - Atlantoaxial dislocation - Atria septal defect - Autosomal dominant inheritance - Bullet-shaped middle phalanges of the hand - Cerebral atrophy - Choanal stenosis - Death in childhood - Decreased body weight - Distal widening of metacarpals - Failure to thrive - Glossoptosis - Hearing impairment - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular dentition - Large sternal ossification centers - Low-set ears - Macrogyria - Malar flattening - Motor delay - Muscular hypotonia - Obstructive sleep apnea - Omphalocele - Overfolded helix - Patent ductus arteriosus - Pectus excavatum - Prominence of the premaxilla - Prominent forehead - Pulmonary hypertension - Recurrent aspiration pneumonia - Retrognathia - Shallow orbits - Short distal phalanx of finger - Short mandibular rami - Short philtrum - Short sternum - Sporadic - Synophrys - Tall stature - Thick eyebrow - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual. |
symptoms | What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? | What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cardiomegaly 5% Mitral valve prolapse 5% Retroperitoneal fibrosis 5% Ventricular septal defect 5% Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Diabetes mellitus - Elbow flexion contracture - Episcleritis - Fever - Growth hormone deficiency - Hallux valgus - Hepatomegaly - Histiocytosis - Hypergonadotropic hypogonadism - Lymphadenopathy - Phenotypic variability - Proptosis - Sensorineural hearing impairment - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Acatalasemia ? | What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Oral ulcer - Reduced catalase activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Chronic hiccups ? | Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. However, chronic hiccups last over two days and in rare cases, may continue for over a month. Hiccups that recur over long periods of time are also considered "chronic." Depending on how long the hiccups last, affected people may become exhausted, dehydrated and/or lose weight due to interruptions in sleep and normal eating patterns. Other complications may include irregular heart beat and gastroesophageal reflux. The exact underlying cause is often unknown; some cases may be caused by surgery, certain medications and/or a variety of health problems such as central nervous system (brain and spinal cord) abnormalities, psychological problems, conditions that irritate the diaphragm, and metabolic diseases. Treatment of chronic hiccups varies but may include medications and/or surgery. |
symptoms | What are the symptoms of Chronic hiccups ? | What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Functional respiratory abnormality 90% Recurrent singultus 90% Abnormality of temperature regulation 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Dehydration 7.5% Diabetes insipidus 7.5% Neoplasm of the nervous system 7.5% Renal insufficiency 7.5% Sleep disturbance 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Chronic hiccups ? | What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also be associated with a variety of health problems including: Pneumonia, pleurisy and other conditions that irritate the diaphragm Brain abnormalities (i.e. strokes, tumors, injuries, infections) Metabolic disorders Gastrointestinal (esophagus, stomach, small/large intestines) diseases Psychological problems such as hysteria, shock, fear, and personality disorders Liver abnormalities Kidney disorders For a comprehensive listings of factors that can cause chronic hiccups, please click here. |
inheritance | Is Chronic hiccups inherited ? | Are chronic hiccups inherited? Chronic hiccups are not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. |
exams and tests | How to diagnose Chronic hiccups ? | How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For more information about the workup and diagnosis of chronic hiccups, please click here. |
treatment | What are the treatments for Chronic hiccups ? | How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol Muscle relaxants Anticonvulsant agents including phenytoin, valproic acid, and carbamazepine Sedatives Pain medications Stimulants Rarely, medications may not be effective in the treatment of chronic hiccups. In these cases, surgery to temporarily or permanently block the phrenic nerve may be performed. The phrenic nerve controls the diaphragm. |
symptoms | What are the symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ? | What are the signs and symptoms of Deafness with labyrinthine aplasia microtia and microdontia (LAMM)? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness with labyrinthine aplasia microtia and microdontia (LAMM). If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cranial nerves 90% Microdontia 90% Abnormality of the nares 50% Long face 50% Pointed chin 50% Wide nasal bridge 50% Abnormal nasal morphology 7.5% Anterior creases of earlobe 7.5% Hypermetropia 7.5% Hypertelorism 7.5% Increased number of teeth 7.5% Preauricular skin tag 7.5% Reduced number of teeth 7.5% Strabismus 7.5% Synophrys 7.5% Tall stature 7.5% Anteverted ears - Aplasia of the inner ear - Autosomal recessive inheritance - Conical tooth - Delayed gross motor development - Microtia, first degree - Profound sensorineural hearing impairment - Skin tags - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma ? | What are the signs and symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid changes, cutis verticis gyrata and corneal leukoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye - Autosomal dominant inheritance - Cutis gyrata of scalp - Large hands - Mandibular prognathia - Periostosis - Soft skin - Tall stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Noonan syndrome 3 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. |
symptoms | What are the symptoms of Noonan syndrome 3 ? | What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Atrial septal aneurysm - Autosomal dominant inheritance - Frontal bossing - Hypertelorism - Juvenile myelomonocytic leukemia - Low-set ears - Pulmonic stenosis - Sagittal craniosynostosis - Short nose - Short stature - Ventricular septal defect - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Noonan syndrome 3 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site. |
symptoms | What are the symptoms of Costocoracoid ligament congenitally short ? | What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Narrow chest 90% Sprengel anomaly 90% Abnormality of the scapula - Abnormality of the shoulder girdle musculature - Autosomal dominant inheritance - Down-sloping shoulders - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Chromosome 5q deletion ? | Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 5q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Wilson-Turner syndrome ? | What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Obesity 90% Gynecomastia 50% Neurological speech impairment 50% Abnormality of calvarial morphology 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Arthritis 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Incoordination 7.5% Large earlobe 7.5% Lymphedema 7.5% Macrotia 7.5% Mandibular prognathia 7.5% Narrow mouth 7.5% Pointed chin 7.5% Preauricular skin tag 7.5% Reduced number of teeth 7.5% Round ear 7.5% Scoliosis 7.5% Seizures 7.5% Short palm 7.5% Striae distensae 7.5% Synophrys 7.5% Tapered finger 7.5% Thick eyebrow 7.5% Toxemia of pregnancy 7.5% Umbilical hernia 7.5% Brachycephaly - Broad nasal tip - Decreased muscle mass - Decreased testicular size - Deeply set eye - Delayed puberty - Delayed speech and language development - Emotional lability - Hypogonadism - Intellectual disability - Kyphosis - Microcephaly - Micropenis - Misalignment of teeth - Muscular hypotonia - Prominent supraorbital ridges - Retrognathia - Short ear - Short foot - Short stature - Small hand - Truncal obesity - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene. |
symptoms | What are the symptoms of Multiple epiphyseal dysplasia ? | What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Abnormality of the wrist 90% Anteverted nares 90% Aplasia/Hypoplasia of the sacrum 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Myopia 90% Osteoarthritis 90% Rough bone trabeculation 90% Round face 90% Sensorineural hearing impairment 90% Short palm 90% Tarsal synostosis 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Gait disturbance 50% Malar flattening 50% Micromelia 50% Patellar aplasia 50% Scoliosis 50% Short stature 50% Talipes 50% Anonychia 7.5% Genu valgum 7.5% Genu varum 7.5% Hearing abnormality 7.5% Abnormality of the hip joint - Arthralgia of the hip - Autosomal dominant inheritance - Autosomal recessive inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Coxa vara - Delayed epiphyseal ossification - Delayed ossification of carpal bones - Delayed tarsal ossification - Disproportionate short-limb short stature - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Flat capital femoral epiphysis - Flattened epiphysis - Generalized joint laxity - Hip dysplasia - Hip osteoarthritis - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the femoral head - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Knee osteoarthritis - Limited elbow flexion - Limited hip movement - Metaphyseal irregularity - Mild short stature - Multiple epiphyseal dysplasia - Ovoid vertebral bodies - Premature osteoarthritis - Proximal muscle weakness - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Talipes equinovarus - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is Multiple epiphyseal dysplasia inherited ? | How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation. More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% to be both unaffected and not a carrier. |
information | What is (are) Idiopathic inflammatory myopathy ? | Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis, which are each associated with unique features. As the name suggests, the cause of the condition is currently unknown (idiopathic). However, researchers suspect that it may occur due to a combination of genetic and environmental factors. Treatment is supportive and based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Idiopathic inflammatory myopathy ? | What are the signs and symptoms of Idiopathic inflammatory myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic inflammatory myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Myositis - Proximal muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Split hand foot malformation ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. |
symptoms | What are the symptoms of Split hand foot malformation ? | What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the pinna 35% Hearing impairment 35% Cleft palate 33% Intellectual disability 33% Oligodactyly (feet) 33% Oligodactyly (hands) 33% Syndactyly 33% Abnormality of cardiovascular system morphology 13% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the tongue 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the phalanges of the hand - Aplasia/Hypoplasia of the phalanges of the toes - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad hallux - Camptodactyly - Clinodactyly - Ectrodactyly - Finger syndactyly - High palate - Incomplete penetrance - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Short metacarpal - Short phalanx of finger - Split foot - Split hand - Toe syndactyly - Triphalangeal thumb - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Split hand foot malformation ? | What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the conditions are passed through families in an autosomal dominant fashion with reduced penetrance. In autosomal dominant inheritance an affected parent would have a 1 in 2 or 50% chance with each pregnancy of passing the genetic defect to his/her offspring. In conditions with reduced penetrance a person who inherits the underlying genetic defect, may never develop the condition. More rarely other forms of inheritance have been reported (e.g., autosomal-recessive, X-linked, chromosome deletions, chromosome duplications). |
information | What is (are) Congenital dyserythropoietic anemia type 2 ? | Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder. |
symptoms | What are the symptoms of Congenital dyserythropoietic anemia type 2 ? | What are the signs and symptoms of Congenital dyserythropoietic anemia type 2? The signs and symptoms of CDA II include jaundice, gallstones and an enlarged liver and spleen. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. During pregnancy and other special circumstances (such as anemic crisis, major surgery and infections), blood transfusions may be necessary. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia of inadequate production - Autosomal recessive inheritance - Cholelithiasis - Endopolyploidy on chromosome studies of bone marrow - Jaundice - Reduced activity of N-acetylglucosaminyltransferase II - Reticulocytosis - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Congenital dyserythropoietic anemia type 2 ? | How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's. If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen. Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection. People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2. |
symptoms | What are the symptoms of Rhabdomyosarcoma alveolar ? | What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alveolar rhabdomyosarcoma - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene. |
symptoms | What are the symptoms of Congenital contractural arachnodactyly ? | What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm span exceeding height), arachnodactyly (long slender fingers and toes), 'crumpled' ears, contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips), bowed long bones, muscular hypoplasia (underdeveloped muscles), kyphosis/scoliosis, aortic root dilation, and various craniofacial abnormalities (such as micrognathia, high arched palate, scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head), brachycephaly (premature fusion of the coronal suture, leading to a short skull), and frontal bossing). At the most severe end of the spectrum is a rare type with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital contractural arachnodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the helix 90% Abnormality of the palate 90% Arachnodactyly 90% Camptodactyly of finger 90% Disproportionate tall stature 90% External ear malformation 90% Elbow flexion contracture 86% Knee flexion contracture 81% Crumpled ear 78% Kyphoscoliosis 45% Talipes equinovarus 32% Hip contracture 25% Abnormality of the mitral valve 7.5% Aortic dilatation 7.5% Duodenal stenosis 7.5% Ectopia lentis 7.5% Intestinal malrotation 7.5% Tracheoesophageal fistula 7.5% Adducted thumb - Aortic root dilatation - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Brachycephaly - Calf muscle hypoplasia - Congenital kyphoscoliosis - Distal arthrogryposis - Dolichocephaly - Frontal bossing - High palate - Mitral regurgitation - Mitral valve prolapse - Motor delay - Myopia - Osteopenia - Patellar dislocation - Patellar subluxation - Patent ductus arteriosus - Pectus carinatum - Short neck - Ulnar deviation of finger - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Congenital contractural arachnodactyly ? | What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN2 gene can reduce the amount and/or quality of fibrillin-2 that is available to form microfibrils. As a result, decreased microfibril formation weakens the elastic fibers and allows growth factors to be released inappropriately, causing tall stature, deformities of the fingers and toes, and other characteristic features of congenital contractural arachnodactyly. |
inheritance | Is Congenital contractural arachnodactyly inherited ? | How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
treatment | What are the treatments for Congenital contractural arachnodactyly ? | How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise and in the standard manner. Regular physician visits should be scheduled to monitor symptom progression and development. |
symptoms | What are the symptoms of Pellagra like syndrome ? | What are the signs and symptoms of Pellagra like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pellagra like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Dry skin 90% Nystagmus 90% Skin rash 90% Urticaria 90% Abnormality of movement 50% Cataract 50% Cognitive impairment 50% Diplopia 50% Muscular hypotonia 50% Neurological speech impairment 50% Reduced consciousness/confusion 50% Short stature 50% Ataxia - Autosomal recessive inheritance - Confusion - Dysarthria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Fraser like syndrome ? | What are the signs and symptoms of Fraser like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fraser like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Contracture of the proximal interphalangeal joint of the 2nd finger - Ovarian cyst - Overlapping toe - Subglottic stenosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Geroderma osteodysplastica ? | Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene. |
symptoms | What are the symptoms of Geroderma osteodysplastica ? | What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutis laxa 90% Hyperextensible skin 90% Joint hypermobility 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Abnormality of the hip bone 50% Muscular hypotonia 50% Scoliosis 50% Abnormality of epiphysis morphology 7.5% Cognitive impairment 7.5% Hernia 7.5% Hypoplasia of the zygomatic bone 7.5% Mandibular prognathia 7.5% Microcornea 7.5% Pectus carinatum 7.5% Pes planus 7.5% Platyspondyly 7.5% Prematurely aged appearance 7.5% Talipes 7.5% Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Camptodactyly - Deeply set eye - Delayed speech and language development - Femoral bowing - Hyperextensibility of the finger joints - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microcephaly - Osteopenia - Osteoporosis - Periodontitis - Severe short stature - Tibial bowing - Vertebral compression fractures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial palsy 5% Abnormality of pelvic girdle bone morphology - Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Back pain - Difficulty climbing stairs - Distal amyotrophy - Dysphasia - Dystonia - Elevated alkaline phosphatase of bone origin - Elevated serum creatine phosphokinase - Frontal cortical atrophy - Frontotemporal dementia - Gait disturbance - Limb muscle weakness - Lumbar hyperlordosis - Myopathy - Pelvic girdle amyotrophy - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - Scapular winging - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Temporal cortical atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysgammaglobulinemia - Ectodermal dysplasia - Immunodeficiency - Recurrent infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Dystonia 11 ? | What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation ? | What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior segment dysgenesis - Atresia of the external auditory canal - Autosomal recessive inheritance - Convex nasal ridge - Hypertelorism - Intrauterine growth retardation - Macrotia - Microcephaly - Narrow mouth - Retrognathia - Semilobar holoprosencephaly - Strabismus - Telecanthus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Radio-ulnar synostosis type 2 ? | What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Pulmonary vein stenosis ? | Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Pulmonary vein stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension. Surgery and catheterization to widen the narrow veins is usually a short-term solution since the obstruction typically recurs. |
symptoms | What are the symptoms of Pulmonary vein stenosis ? | What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Kuskokwim disease ? | Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pelvic, and foot deformities. Other skeletal features have also been reported. Kuskokwim disease has been shown to be caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of Kuskokwim disease ? | What are the signs and symptoms of Kuskokwim disease? The range and and severity of signs and symptoms in individuals with Kuskokwim disease can vary, even among siblings. Affected individuals usually have congenital contractures, especially of lower extremities, which progress during childhood and persist for the lifetime of the individual. However, not all individuals with the condition have contractures at birth. The severity of contractures can be very asymmetrical in any given individual. The knees and elbows are often affected, and skeletal abnormalities of the spine, pelvis, and feet also commonly occur. Muscle atrophy of limbs with contractures and displacement of kneecaps (patellae) have also been reported. Milder skeletal features are common. Vertebral features may include spondylolisthesis, mild to moderate scoliosis, and/or lordosis. Many affected individuals have had several low-energy fractures. Other skeletal abnormalities that have been reported include bunions (hallux valgus), "flat feet" (plano valgus feet), and clubfoot (talipes equinovarus). Development and arrangement of the teeth (dentition) are normal. Although some individuals with full bilateral contractures of the knees can move about by duck walking (sitting with buttocks on their heels) or by knee walking (moving on their knees with their lower legs drawn up behind them to their buttocks), most affected individuals are treated with leg braces and/or surgery in childhood and can walk upright. The Human Phenotype Ontology provides the following list of signs and symptoms for Kuskokwim disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Limitation of joint mobility 90% Patellar aplasia 90% Talipes 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the clavicle 7.5% Aplasia/Hypoplasia of the radius 7.5% Melanocytic nevus 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Kuskokwim disease ? | How might Kuskokwim disease be treated? Treatment for Kuskokwim disease depends on the nature and severity of signs and symptoms in each affected individual. There is currently no completely successful approach to treat arthrogryposis. The goals of treatment may include lower-limb alignment, establishing stability for ambulation (moving about) and improving upper-limb function for self-care. Many individuals with Kuskokwim disease are treated with leg braces and/or surgery and eventually are able to walk upright. |
information | What is (are) Beta-thalassemia ? | Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia is called thalassemia major or Cooleys anemia. Thalassemia intermedia is a less severe form. Beta-thalassemia is caused by mutations in the HBB gene and is usually inherited in an autosomal recessive manner. People who have only one HBB gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. Treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure). |
symptoms | What are the symptoms of Beta-thalassemia ? | What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Hypersplenism 90% Pallor 90% Splenomegaly 90% Abnormality of iron homeostasis 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Abnormality of the teeth 50% Behavioral abnormality 50% Biliary tract abnormality 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Genu valgum 50% Hepatomegaly 50% Malabsorption 50% Malar prominence 50% Muscle weakness 50% Paresthesia 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Upslanted palpebral fissure 50% Abnormality of color vision 7.5% Abnormality of the thorax 7.5% Anterior hypopituitarism 7.5% Arthralgia 7.5% Bone marrow hypocellularity 7.5% Cataract 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypothyroidism 7.5% Neoplasm of the liver 7.5% Nyctalopia 7.5% Primary adrenal insufficiency 7.5% Pulmonary hypertension 7.5% Skeletal dysplasia 7.5% Skin ulcer 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Hypochromic microcytic anemia - Reduced beta/alpha synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is Beta-thalassemia inherited ? | How is beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.' In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia. |
symptoms | What are the symptoms of Leucine-sensitive hypoglycemia of infancy ? | What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Coma - Drowsiness - Hyperinsulinemic hypoglycemia - Hyperreflexia - Hypoglycemia - Intellectual disability - Irritability - Spasticity - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Logopenic progressive aphasia ? | Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well articulated and grammatically correct with good single-word comprehension. But over time, affected individuals may have trouble understanding long or complex verbal information, due to problems holding onto lengthy information that they hear. Language difficulties associated with LPA are due to shrinking, or atrophy, in the left posterior temporal cortex and inferior parietal lobule. Click here to view an image of the lobes of the brain. |
treatment | What are the treatments for Logopenic progressive aphasia ? | How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf |
symptoms | What are the symptoms of Duodenal atresia ? | What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duodenal stenosis 90% Polyhydramnios 90% Abnormality of the pancreas 7.5% Abnormality of the pulmonary artery 7.5% Autosomal recessive inheritance - Duodenal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Amyotonia congenita ? | What are the signs and symptoms of Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Lymphedema-distichiasis syndrome ? | Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems, varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate), may also be present. Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern. |
symptoms | What are the symptoms of Lymphedema-distichiasis syndrome ? | What are the signs and symptoms of Lymphedema-distichiasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema-distichiasis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Corneal erosion 90% Distichiasis 90% Photophobia 90% Cataract 50% Muscle weakness 50% Ptosis 50% Abnormality of the pulmonary vasculature 7.5% Arrhythmia 7.5% Benign neoplasm of the central nervous system 7.5% Diabetes mellitus 7.5% Glomerulopathy 7.5% Patent ductus arteriosus 7.5% Proteinuria 7.5% Recurrent urinary tract infections 7.5% Renal duplication 7.5% Sarcoma 7.5% Skin ulcer 7.5% Webbed neck 7.5% Cleft palate 4% Cleft upper lip 4% Abnormality of the musculature - Autosomal dominant inheritance - Conjunctivitis - Corneal ulceration - Lymphedema - Predominantly lower limb lymphedema - Recurrent corneal erosions - Tetralogy of Fallot - Varicose veins - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Neuropathy, congenital, with arthrogryposis multiplex ? | What are the signs and symptoms of Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of lower limbs - Autosomal dominant inheritance - Babinski sign - Broad-based gait - Calcaneovalgus deformity - Congenital onset - Congenital peripheral neuropathy - Distal amyotrophy - Distal muscle weakness - Hyperlordosis - Hyporeflexia of lower limbs - Nonprogressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Hemophilia B ? | Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene. |
symptoms | What are the symptoms of Hemophilia B ? | What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ? | What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Camptodactyly of finger - Distal arthrogryposis - Full cheeks - Growth hormone deficiency - Hammertoe - Intellectual disability, progressive - Intellectual disability, severe - Square face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Kozlowski Celermajer Tink syndrome ? | What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Spinocerebellar ataxia 34 ? | What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Gait disturbance 90% Hypermelanotic macule 90% Hypohidrosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Urticaria 90% Abnormality of the musculature 7.5% Facial asymmetry 7.5% Strabismus 7.5% Fasciculations 5% Intention tremor 5% Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysdiadochokinesis - Gait ataxia - Hyperkeratosis - Hyporeflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Myofibrillar myopathy ? | Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood. It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, and BAG3; the signs and symptoms of MFM can vary widely depending on the condition's genetic cause. It is inherited in an autosomal dominant manner. Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory support for respiratory failure; and physical therapy and assistive devices for those with advanced muscle weakness. |
symptoms | What are the symptoms of Myofibrillar myopathy ? | What are the signs and symptoms of Myofibrillar myopathy? Myofibrillar myopathy (MFM) primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of MFM can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the front surface of the eyes (cataracts). The Human Phenotype Ontology provides the following list of signs and symptoms for Myofibrillar myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arrhythmia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bulbar palsy - Constipation - Diarrhea - Dilated cardiomyopathy - Distal muscle weakness - EMG: myopathic abnormalities - Facial palsy - Hypertrophic cardiomyopathy - Hyporeflexia of lower limbs - Late-onset proximal muscle weakness - Neck muscle weakness - Phenotypic variability - Respiratory insufficiency due to muscle weakness - Restrictive heart failure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Pyruvate decarboxylase deficiency ? | What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 35% Abnormality of eye movement - Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Frontal bossing - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Long philtrum - Microcephaly - Muscular hypotonia - Phenotypic variability - Ptosis - Seizures - Severe lactic acidosis - Small for gestational age - Ventriculomegaly - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Rippling muscle disease, 1 ? | What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EMG abnormality - Exercise-induced muscle cramps - Exercise-induced muscle stiffness - Exercise-induced myalgia - Muscle hyperirritability - Muscle mounding - Percussion-induced rapid rolling muscle contractions (PIRC) - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Chromosome 2q deletion ? | Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. |
symptoms | What are the symptoms of Herrmann syndrome ? | What are the signs and symptoms of Herrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Herrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Astrocytosis - Ataxia - Autosomal dominant inheritance - Cochlear degeneration - Confusion - Depression - Diabetes mellitus - Focal motor seizures - Horizontal nystagmus - Nephropathy - Personality changes - Photomyoclonic seizures - Progressive sensorineural hearing impairment - Slowed slurred speech - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |