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inheritance | Is Thoracic outlet syndrome inherited ? | Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance. While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/ |
exams and tests | How to diagnose Thoracic outlet syndrome ? | How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult. |
symptoms | What are the symptoms of Dystonia 2, torsion, autosomal recessive ? | What are the signs and symptoms of Dystonia 2, torsion, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 2, torsion, autosomal recessive. 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 - Blepharospasm - Dysarthria - Dysphagia - Juvenile onset - Torsion dystonia - Torticollis - Tremor - 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 Skin fragility-woolly hair-palmoplantar keratoderma syndrome ? | What are the signs and symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Skin fragility-woolly hair-palmoplantar keratoderma 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 the cardiovascular system - Alopecia - Autosomal recessive inheritance - Failure to thrive - Fragile skin - Nail dysplasia - Nail dystrophy - Palmoplantar keratosis with erythema and scale - Sparse eyebrow - Sparse eyelashes - Woolly hair - 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) 22q11.2 deletion syndrome ? | 22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner. |
symptoms | What are the symptoms of 22q11.2 deletion syndrome ? | What are the signs and symptoms of 22q11.2 deletion syndrome? Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include: Heart defects (74% of individuals) Palatal abnormalities (69% of individuals) Characteristic facial features (e.g., elongated face, almond-shaped eyes, wide nose, and small ears) Learning difficulties (70-90% of individuals) Immune system problems (75% of individuals) Low levels of calcium (50% of individuals) Significant feeding problems (30% of individuals) Kidney anomalies (37% of individuals) Hearing loss Laryngotracheoesophageal anomalies Growth hormone deficiency Autoimmune disorders (e.g., thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid, vitiligo, neutropenia, and hemolytic anemia) Seizures Skeletal abnormalities (e.g., extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis) Psychiatric illness Eye abnormalities (e.g., ptosis, coloboma, cataract, and strabismus) Central nervous system abnormalities Gastrointestinal anomalies Preauricular tags Abnormal growths (e.g., hepatoblastoma, renal cell carcinoma, Wilm's tumor, and neuroblastoma) The Human Phenotype Ontology provides the following list of signs and symptoms for 22q11.2 deletion 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 nasal morphology 90% Abnormality of the aorta 90% Abnormality of the pharynx 90% Abnormality of the philtrum 90% Abnormality of the pulmonary valve 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the thymus 90% Atria septal defect 90% Cognitive impairment 90% Epicanthus 90% Highly arched eyebrow 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Neurological speech impairment 90% Oral cleft 90% Premature birth 90% Prominent nasal bridge 90% Short stature 90% Telecanthus 90% Tetralogy of Fallot 90% Truncus arteriosus 90% Upslanted palpebral fissure 90% Ventricular septal defect 90% Acne 50% Anonychia 50% Aplasia/Hypoplasia of the earlobes 50% Aplastic/hypoplastic toenail 50% Attention deficit hyperactivity disorder 50% Carious teeth 50% Clinodactyly of the 5th finger 50% Constipation 50% Deeply set eye 50% External ear malformation 50% Hearing impairment 50% Hypocalcemia 50% Hypoparathyroidism 50% Hypoplasia of the zygomatic bone 50% Intrauterine growth retardation 50% Long face 50% Malar flattening 50% Microcephaly 50% Neoplasm of the nervous system 50% Otitis media 50% Overfolded helix 50% Pes planus 50% Pointed chin 50% Ptosis 50% Seborrheic dermatitis 50% Short neck 50% Thin vermilion border 50% Underdeveloped nasal alae 50% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of periauricular region 7.5% Abnormality of the aortic valve 7.5% Abnormality of the hip bone 7.5% Abnormality of the thorax 7.5% Abnormality of the tricuspid valve 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Arachnodactyly 7.5% Arthritis 7.5% Asthma 7.5% Atelectasis 7.5% Autism 7.5% Autoimmunity 7.5% Biliary tract abnormality 7.5% Blepharophimosis 7.5% Bowel incontinence 7.5% Bowing of the long bones 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cataract 7.5% Choanal atresia 7.5% Chronic obstructive pulmonary disease 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Dilatation of the ascending aorta 7.5% Displacement of the external urethral meatus 7.5% Facial asymmetry 7.5% Feeding difficulties in infancy 7.5% Foot polydactyly 7.5% Gastrointestinal hemorrhage 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Holoprosencephaly 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Hypertensive crisis 7.5% Hyperthyroidism 7.5% Hypothyroidism 7.5% Intestinal malrotation 7.5% Joint hypermobility 7.5% Multicystic kidney dysplasia 7.5% Narrow mouth 7.5% Obsessive-compulsive behavior 7.5% Oculomotor apraxia 7.5% Optic atrophy 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Recurrent respiratory infections 7.5% Recurrent urinary tract infections 7.5% Renal hypoplasia/aplasia 7.5% Sandal gap 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short distal phalanx of finger 7.5% Spina bifida 7.5% Splenomegaly 7.5% Stereotypic behavior 7.5% Strabismus 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Toe syndactyly 7.5% Ulnar deviation of finger 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Venous insufficiency 7.5% Vesicoureteral reflux 7.5% Smooth philtrum 6/6 Intrauterine growth retardation 5/6 Highly arched eyebrow 4/5 Underdeveloped nasal alae 4/6 Pointed chin 3/5 Deeply set eye 3/6 Behavioral abnormality 2/6 Cleft palate 1/6 Truncus arteriosus 1/6 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 22q11.2 deletion syndrome ? | What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. Some affected people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness in affected people. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome. |
inheritance | Is 22q11.2 deletion syndrome inherited ? | Is 22q11.2 deletion syndrome inherited? Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion. All people with the deletion, whether they inherited it or not, can pass the deletion to their children. The inheritance pattern is autosomal dominant because having a deletion in only one copy of chromosome 22 in each cell is enough to cause signs and symptoms. Each child of a person with the deletion has a 50% (1 in 2) chance to inherit the deletion. |
information | What is (are) Neurogenic diabetes insipidus ? | Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. To treat the ADH deficiency that results from any kind of damage to the pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill. |
symptoms | What are the symptoms of Neurogenic diabetes insipidus ? | What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. 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 renal physiology 90% Dehydration 90% Diabetes insipidus 90% Weight loss 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Reduced consciousness/confusion 50% Diarrhea 7.5% Hypernatremia 7.5% Hyponatremia 7.5% Nausea and vomiting 7.5% Seizures 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Gliosis - Hypertelorism - Long philtrum - Osteopenia - Short nose - Wide nose - 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) Laron syndrome ? | Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. It is often caused by changes (mutations) in the GHR gene and is inherited in an autosomal recessive manner. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1). |
symptoms | What are the symptoms of Laron syndrome ? | What are the signs and symptoms of Laron syndrome? Laron syndrome is a rare condition in which the body is unable to use growth hormone. The primary symptom is short stature. Although affected people are generally close to average size at birth, they experience slow growth from early childhood. If left untreated, adult males with Laron syndrome typically reach a maximum height of about 4.5 feet and adult females may be just over 4 feet tall. Other signs and symptoms associated with the condition vary but may include: Reduced muscle strength and endurance Hypoglycemia in infancy Delayed puberty Small genitals Thin, fragile hair Dental abnormalities Short limbs (arms and legs) Obesity Distinctive facial features (protruding forehead, a sunken bridge of the nose, and blue sclerae) People affected by Laron syndrome appear to have a reduced risk of cancer and type 2 diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Laron 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% Aplasia/Hypoplasia involving the nose 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% High forehead 90% Microdontia 90% Reduced number of teeth 90% Truncal obesity 90% Abnormality of the elbow 50% Brachydactyly syndrome 50% Hypoglycemia 50% Hypoplasia of penis 50% Short toe 50% Skeletal muscle atrophy 50% Underdeveloped supraorbital ridges 50% Abnormality of lipid metabolism 7.5% Abnormality of the voice 7.5% Blue sclerae 7.5% Cognitive impairment 7.5% Depressed nasal ridge 7.5% Hypertrichosis 7.5% Hypohidrosis 7.5% Osteoarthritis 7.5% Prematurely aged appearance 7.5% Abnormal joint morphology - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Delayed menarche - High pitched voice - Severe short stature - Short long bone - Small 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. |
causes | What causes Laron syndrome ? | What causes Laron syndrome? Laron syndrome is caused by changes (mutations) in the GHR gene. This gene encodes growth hormone receptor, which is a protein found on the outer membrane of cells throughout the body. Growth hormone receptor is designed to recognize and bind growth hormone, which triggers cellular growth and division. When growth hormone is bound to the growth hormone receptors on liver cells, specifically, insulin-like growth factor I (another important growth-promoting hormone) is produced. Mutations in GHR impair the function of growth hormone receptors which interferes with their ability to bind growth hormone. This disrupts normal growth and development of cells and prevents the production of insulin-like growth factor I which causes the many signs and symptoms of Laron syndrome. |
inheritance | Is Laron syndrome inherited ? | Is Laron syndrome inherited? Most cases of Laron syndrome are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Reports exist of rare families in which Laron syndrome appears to be inherited in an autosomal dominant manner. In these cases, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. An affected person has a 50% chance with each pregnancy of passing along the altered gene to his or her child. |
exams and tests | How to diagnose Laron syndrome ? | How is Laron syndrome diagnosed? A diagnosis of Laron syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that cause similar features. This generally includes blood tests to measure the levels of certain hormones that are often abnormal in people with Laron syndrome. For example, affected people may have elevated levels of growth hormone and reduced levels of insulin-like growth factor I. Genetic testing for changes (mutations) in the GHR gene can also be used to confirm a diagnosis in some cases. |
treatment | What are the treatments for Laron syndrome ? | How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems. |
symptoms | What are the symptoms of Acrocallosal syndrome, Schinzel type ? | What are the signs and symptoms of Acrocallosal syndrome, Schinzel type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocallosal syndrome, Schinzel type. 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 corpus callosum 100% Cognitive impairment 90% Duplication of phalanx of hallux 90% Duplication of thumb phalanx 90% Hypertelorism 90% Macrocephaly 90% Postaxial foot polydactyly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Preaxial hand polydactyly 90% Failure to thrive 75% Growth delay 75% Broad forehead 50% Dandy-Walker malformation 50% Epicanthus 50% Preauricular skin tag 50% Prominent occiput 50% Short nose 50% Sloping forehead 50% Triphalangeal thumb 50% Wide anterior fontanel 50% Finger syndactyly 33% Inguinal hernia 33% Toe syndactyly 33% Umbilical hernia 33% High palate 31% Short philtrum 31% Cleft palate 21% Cleft upper lip 21% Open mouth 16% Microretrognathia 14% Long philtrum 9% Thin vermilion border 9% Abnormality of the clavicle 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hernia of the abdominal wall 7.5% Micropenis 7.5% Nystagmus 7.5% Posteriorly rotated ears 7.5% Sensorineural hearing impairment 7.5% Strabismus 7.5% Tall stature 7.5% Tapered finger 7.5% Coloboma 5% Optic atrophy 5% Hypoplasia of teeth 2% Smooth philtrum 2% Macrocephaly 25/27 Hypertelorism 24/26 Wide nasal bridge 24/26 Intellectual disability 23/25 Frontal bossing 23/26 Generalized hypotonia 20/23 Abnormality of the pinna 19/23 Hypospadias 10/18 Intracranial cystic lesion 10/27 Seizures 9/27 Abnormality of cardiovascular system morphology 5/22 Abnormality of the cardiac septa - Agenesis of corpus callosum - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bifid distal phalanx of the thumb - Brachydactyly syndrome - Clinodactyly of the 5th finger - Heterogeneous - Hypopigmentation of the fundus - Intellectual disability, severe - Phenotypic variability - Postnatal growth retardation - Prominent forehead - Pulmonary valve defects - Rectovaginal fistula - Triangular mouth - 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 Copper deficiency, familial benign ? | What are the signs and symptoms of Copper deficiency, familial benign? The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. 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) Acne 50% Deep philtrum 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Wide nasal bridge 50% Abnormal hair quantity 7.5% Abnormality of the femur 7.5% Abnormality of the tibia 7.5% Anemia 7.5% Abnormality of the skeletal system - Curly hair - Early balding - Failure to thrive - Hypocupremia - Seborrheic dermatitis - 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) Lipodermatosclerosis ? | Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. |
symptoms | What are the symptoms of Lipodermatosclerosis ? | What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose veins Changes in skin color (redness) Small white scarred areas (atrophie blanche) Swelling Leg ulcers Tapering of the legs above the ankles |
causes | What causes Lipodermatosclerosis ? | What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese. |
exams and tests | How to diagnose Lipodermatosclerosis ? | How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. Ultrasound scans and/or magnetic resonance imaging (MRI) may be used to obtain more information regarding the severity of the condition and to determine the best treatment approach. |
treatment | What are the treatments for Lipodermatosclerosis ? | How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended. |
symptoms | What are the symptoms of Torticollis, familial ? | What are the signs and symptoms of Torticollis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Torticollis, familial. 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 - Facial asymmetry - Torticollis - 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 X-linked Charcot-Marie-Tooth disease type 1 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 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) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Gait disturbance 7.5% Hearing impairment 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Babinski sign 5% Cerebellar atrophy 5% Dysmetria 5% Lower limb hyperreflexia 5% Nystagmus 5% Sensorineural hearing impairment 5% Achilles tendon contracture - Axonal degeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Dysphagia - Hyporeflexia - Incomplete penetrance - Motor aphasia - Motor delay - Onion bulb formation - Paraparesis - Sensory neuropathy - Slow progression - Toe walking - 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. |
symptoms | What are the symptoms of Woolly hair syndrome ? | What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair 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) Fine hair 90% Woolly hair 90% Hypopigmentation of hair 50% Slow-growing hair 50% Abnormal hair quantity 7.5% Abnormality of the pupil 7.5% Abnormality of the retinal vasculature 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cataract 7.5% Strabismus 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. |
symptoms | What are the symptoms of Penoscrotal transposition ? | What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. 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) Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - 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 Alopecia-intellectual disability syndrome ? | What are the signs and symptoms of Alopecia-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-intellectual disability 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% Cognitive impairment 90% Delayed skeletal maturation 90% Hearing impairment 90% Microcephaly 90% Muscular hypotonia 90% Abnormality of the genital system 50% Brachydactyly syndrome 50% EEG abnormality 50% Ichthyosis 50% Photophobia 50% Seizures 50% Short stature 50% Split hand 50% Abnormal nasal morphology 7.5% Flexion contracture 7.5% Macrotia 7.5% Scoliosis 7.5% Alopecia universalis - Autosomal recessive inheritance - Intellectual disability, progressive - Intellectual disability, severe - 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) Calciphylaxis ? | Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can develop and become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure. These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more than a few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. |
information | What is (are) Coffin-Siris syndrome ? | Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential. |
symptoms | What are the symptoms of Coffin-Siris syndrome ? | What are the signs and symptoms of Coffin-Siris syndrome? The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes Missing pinky fingernails or toenails Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge Extra hair growth on the face and body Sparse scalp hair Other symptoms that have been described in infants and children with Coffin-Siris syndrome include: Small head size Frequent respiratory infections in infancy Feeding difficulty in infancy Failure to thrive Short stature Low muscle tone Loose joints Eye abnormalities Heart abnormalities Brain abnormalities Kidney abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Coffin-Siris 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 the eyelashes 90% Abnormality of the teeth 90% Anonychia 90% Coarse facial features 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hypertrichosis 90% Microcephaly 90% Muscular hypotonia 90% Short distal phalanx of finger 90% Short stature 90% Slow-growing hair 90% Thick eyebrow 90% Thick lower lip vermilion 90% Aplasia/Hypoplasia of the cerebellum 50% Cryptorchidism 50% Dandy-Walker malformation 50% Depressed nasal bridge 50% Depressed nasal ridge 50% Elbow dislocation 50% Hearing impairment 50% Intrauterine growth retardation 50% Joint hypermobility 50% Nystagmus 50% Patellar aplasia 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Strabismus 50% Wide mouth 50% Abnormal localization of kidney 7.5% Abnormality of the clavicle 7.5% Abnormality of the hip bone 7.5% Abnormality of the intervertebral disk 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplastic/hypoplastic toenail 7.5% Cataract 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Cutis marmorata 7.5% Epicanthus 7.5% Kyphosis 7.5% Lacrimation abnormality 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Spina bifida occulta 7.5% Aggressive behavior - Aplasia of the uterus - Aplasia/Hypoplasia of the patella - Astigmatism - Atria septal defect - Autistic behavior - Autosomal recessive inheritance - Broad nasal tip - Choanal atresia - Coxa valga - Delayed eruption of teeth - Delayed skeletal maturation - Dislocated radial head - Duodenal ulcer - Ectopic kidney - Facial hypertrichosis - Gastric ulcer - Hemangioma - High palate - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplastic fifth fingernail - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability - Intestinal malrotation - Intussusception - Joint laxity - Long eyelashes - Lumbosacral hirsutism - Myopia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Postnatal growth retardation - Preauricular skin tag - Renal hypoplasia - Sacral dimple - Severe expressive language delay - Short distal phalanx of the 5th finger - Short distal phalanx of the 5th toe - Short sternum - Sparse scalp hair - Tetralogy of Fallot - Umbilical hernia - 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 Coffin-Siris syndrome ? | What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell. Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation. In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown. |
exams and tests | How to diagnose Coffin-Siris syndrome ? | How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common. You can find detailed information on this topic at the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK131811/#coffin-siris.Diagnosis Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome. |
treatment | What are the treatments for Coffin-Siris syndrome ? | How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual, such as by gastrointestinal, eye, kidney, heart, and hearing specialists. |
information | What is (are) Non-A-E hepatitis ? | Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen, and fever. Non-A-E hepatitis usually goes away on its own, but it can become a chronic condition in a small proportion (12%) of affected individuals. The cause of non-A-E hepatitis is currently unknown. |
symptoms | What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ? | What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. 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) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - 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 Bardet-Biedl syndrome 7 ? | What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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 Spastic paraplegia 10 ? | What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. 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 5% Parkinsonism 5% Ankle clonus - Autosomal dominant inheritance - Babinski sign - Distal sensory impairment - Hyperreflexia - Impaired vibration sensation in the lower limbs - Knee clonus - Lower limb muscle weakness - Pes cavus - Phenotypic variability - Progressive - Scoliosis - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - 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 Dextrocardia with unusual facies and microphthalmia ? | What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. 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 - Anophthalmia - Autosomal recessive inheritance - Choreoathetosis - Cleft palate - Dextrocardia - Intellectual disability - Macrotia - Microphthalmia - Prominent nose - Sloping forehead - Supernumerary ribs - Vertebral segmentation 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 Insulinoma ? | What are the signs and symptoms of Insulinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulinoma. 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) Insulinoma - Somatic mutation - 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 deafness syndrome ? | What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness 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% Epicanthus 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Sensorineural hearing impairment 90% Abnormality of the palate 50% Neurological speech impairment 50% Preauricular skin tag 50% Short stature 50% Autosomal dominant inheritance - Cupped ear - Hearing impairment - Intellectual disability - Prominent glabella - 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) Stevens-Johnson syndrome ? | Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids). |
symptoms | What are the symptoms of Stevens-Johnson syndrome ? | What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must involve less than 10% of the body surface area. The condition is characterized by painful, blistery lesions on the skin and the mucous membranes (the thin, moist tissues that line body cavities) of the mouth, throat, genital region, and eyelids. It can also cause serious eye problems, such as severe conjunctivitis; iritis, an inflammation inside the eye; corneal blisters and erosions; and corneal holes. In some cases, the ocular complications from this condition can be disabling and lead to severe vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Stevens-Johnson 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 blistering of the skin 90% Abnormality of temperature regulation 90% Acantholysis 90% Hypermelanotic macule 90% Malabsorption 90% Nausea and vomiting 90% Weight loss 90% Abnormality of neutrophils 50% Excessive salivation 50% Feeding difficulties in infancy 50% Abdominal pain 7.5% Abnormality of the eyelid 7.5% Abnormality of the myocardium 7.5% Abnormality of the pleura 7.5% Abnormality of the preputium 7.5% Abnormality of the urethra 7.5% Acute hepatic failure 7.5% Anemia 7.5% Corneal erosion 7.5% Coronary artery disease 7.5% Elevated hepatic transaminases 7.5% Gastrointestinal hemorrhage 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Photophobia 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Sepsis 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Visual impairment 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 Stevens-Johnson syndrome ? | What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. The allergic reaction to the drug may not occur until 7-14 days after first using it. Stevens-Johnson syndrome can also be preceded by a viral infection, such as herpes or the mumps. In rare cases, Stevens-Johnson syndrome may be caused by an illness or bone marrow transplantation. |
treatment | What are the treatments for Stevens-Johnson syndrome ? | How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144] |
information | What is (are) Spinocerebellar ataxia 15 ? | Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria. |
symptoms | What are the symptoms of Spinocerebellar ataxia 15 ? | What are the signs and symptoms of Spinocerebellar ataxia 15? Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 15. 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) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked horizontal nystagmus - Hyperreflexia - Impaired smooth pursuit - Juvenile onset - Limb ataxia - Postural tremor - Scanning speech - Slow progression - Truncal ataxia - 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) Amyloidosis AA ? | Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, or osteomyelitis. Infection or inflammation in the body causes an increased amount of a specific protein called serum amyloid A (SAA) protein. In this disease, part of the SAA protein forms deposits called "amyloid fibrils". These desposits occur in the space around the cells of certain tissues of the body. Amyloidosis AA usually begins as a disease in the kidneys, but other organs can be affected such as the liver and spleen. Medical or surgical treatment of the underlying infection or inflammatory disease can slow down or stop the progression of this condition. |
treatment | What are the treatments for Amyloidosis AA ? | What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States. |
symptoms | What are the symptoms of Graham-Cox syndrome ? | What are the signs and symptoms of Graham-Cox syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham-Cox 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% Conductive hearing impairment 90% High forehead 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Nystagmus 90% Pectus excavatum 90% Scoliosis 90% Sensorineural hearing impairment 90% Short neck 90% Short stature 90% Choanal atresia 50% Cleft palate 50% Iris coloboma 50% Patent ductus arteriosus 50% Prominent nasal bridge 50% Ventricular septal defect 50% Agenesis of corpus callosum - Broad neck - Cupped ear - High palate - Intellectual disability - Low-set ears - Optic nerve coloboma - Retrognathia - Visual impairment - 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) Alpha-thalassemia x-linked intellectual disability syndrome ? | Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition. |
symptoms | What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? | What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability 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 the fontanelles or cranial sutures 90% Cognitive impairment 90% Cryptorchidism 90% Hypertelorism 90% Malar flattening 90% Male pseudohermaphroditism 90% Microcephaly 90% Neurological speech impairment 90% Abnormality of the heme biosynthetic pathway 50% Abnormality of the tongue 50% Anteverted nares 50% Autism 50% Depressed nasal ridge 50% Epicanthus 50% Hypoplasia of penis 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Talipes 50% Telecanthus 50% Thick lower lip vermilion 50% Abnormality of movement 7.5% Abnormality of the kidney 7.5% Abnormality of the teeth 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Cerebral cortical atrophy 7.5% Clinodactyly of the 5th finger 7.5% Constipation 7.5% Encephalitis 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hemiplegia/hemiparesis 7.5% Limitation of joint mobility 7.5% Myopia 7.5% Nausea and vomiting 7.5% Optic atrophy 7.5% Recurrent urinary tract infections 7.5% Self-injurious behavior 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Volvulus 7.5% Abnormality of metabolism/homeostasis - Absent frontal sinuses - Cerebral atrophy - Clinodactyly - Coxa valga - Depressed nasal bridge - Gastroesophageal reflux - Hemivertebrae - Hydronephrosis - Hypochromic microcytic anemia - Hypospadias - Infantile muscular hypotonia - Intellectual disability - Kyphoscoliosis - Low-set ears - Macroglossia - Micropenis - Microtia - Perimembranous ventricular septal defect - Phenotypic variability - Posteriorly rotated ears - Postnatal growth retardation - Protruding tongue - Radial deviation of finger - Reduced alpha/beta synthesis ratio - Renal agenesis - Shawl scrotum - Short nose - Spasticity - Talipes equinovarus - Tapered finger - Umbilical hernia - U-Shaped upper lip vermilion - Widely-spaced maxillary central incisors - 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. |
inheritance | Is Alpha-thalassemia x-linked intellectual disability syndrome inherited ? | How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier. |
symptoms | What are the symptoms of Agammaglobulinemia, non-Bruton type ? | What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton type. 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) Agammaglobulinemia - Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Crohn's disease - Diarrhea - Failure to thrive - Infantile onset - Neutropenia - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - 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) Polyglucosan body disease, adult ? | Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). Approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. Mutations in the GBE1 gene can cause adult polyglucosan body disease. In some cases, no mutation can be found and the cause of the disease is not known. Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment. |
symptoms | What are the symptoms of Polyglucosan body disease, adult ? | What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. 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 pyramidal signs 90% Abnormal renal physiology 90% Cognitive impairment 90% Erectile abnormalities 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Peripheral neuropathy 90% Behavioral abnormality 50% Skin ulcer 50% Abnormality of extrapyramidal motor function 7.5% Developmental regression 7.5% EMG abnormality 7.5% Incoordination 7.5% Limitation of joint mobility 7.5% Abnormal upper motor neuron morphology - Abnormality of metabolism/homeostasis - Adult onset - Autosomal recessive inheritance - Distal sensory impairment - Paresthesia - Slow progression - Tetraparesis - 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 Autosomal dominant caf au lait spots ? | What are the signs and symptoms of Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . 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) Cafe-au-lait spot 90% Freckling 7.5% Autosomal dominant inheritance - Lisch nodules - Multiple cafe-au-lait spots - 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) Tracheoesophageal fistula ? | Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%. |
symptoms | What are the symptoms of Tracheoesophageal fistula ? | What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. 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) Esophageal atresia - Tracheoesophageal fistula - 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 Tracheoesophageal fistula inherited ? | Is tracheoesophageal fistula inherited? In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). However, in most isolated cases, no specific genetic changes or environmental factors have been proven to cause the condition. When TEF occurs as a feature of a specific genetic syndrome or chromosome abnormality, it may follow the inheritance pattern and recurrence risk for the underlying condition. In these cases, it may be caused by changes in single genes or chromosomes, or it may be multifactorial. |
symptoms | What are the symptoms of Pilodental dysplasia with refractive errors ? | What are the signs and symptoms of Pilodental dysplasia with refractive errors? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilodental dysplasia with refractive errors. 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 hair quantity 90% Abnormality of dental morphology 90% Anteverted nares 90% Hypermetropia 90% Hypohidrosis 90% Irregular hyperpigmentation 90% Long philtrum 90% Myopia 90% Reduced number of teeth 90% Thin vermilion border 90% Astigmatism 50% Hyperkeratosis 50% Cognitive impairment 7.5% Abnormality of the nail - Autosomal recessive inheritance - Brittle hair - Conical incisor - Ectodermal dysplasia - Follicular hyperkeratosis - Hypodontia - Reticular hyperpigmentation - Sparse scalp hair - 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. |
symptoms | What are the symptoms of Abruzzo Erickson syndrome ? | What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson 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) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - 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. |
information | What is (are) Autoimmune myocarditis ? | Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. |
information | What is (are) Behr syndrome ? | Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient. |
symptoms | What are the symptoms of Behr syndrome ? | What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e.g., increased tone in certain muscles, paralysis of voluntary movements, Babinski sign, increased deep tendon reflexes), peripheral neuropathy, dementia, and muscle contractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Behr 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 color vision 90% Cognitive impairment 90% Hypertonia 90% Incoordination 90% Nystagmus 90% Optic atrophy 90% Strabismus 90% Visual impairment 50% Achilles tendon contracture - Adductor longus contractures - Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebellar atrophy - Gait disturbance - Hamstring contractures - Hyperreflexia - Intellectual disability - Progressive spasticity - 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 Behr syndrome ? | What causes Behr syndrome? The exact cause of Behr syndrome is not known; however, a genetic cause is suspected based on the families identified, thus far. |
treatment | What are the treatments for Behr syndrome ? | How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery. |
information | What is (are) Chromosome 14q deletion ? | Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. 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 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. |
information | What is (are) Hereditary sensory neuropathy type 1 ? | Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy. |
symptoms | What are the symptoms of Hereditary sensory neuropathy type 1 ? | What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 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) Abnormality of the skin - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - 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. |
inheritance | Is Hereditary sensory neuropathy type 1 inherited ? | How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new (de novo) mutation in a person without an affected parent. |
exams and tests | How to diagnose Hereditary sensory neuropathy type 1 ? | Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified HSN1C is caused by mutations in the SPTLC2 gene HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A) HSN1E is caused by mutations in the DNMT1 gene The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1. If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms. |
treatment | What are the treatments for Hereditary sensory neuropathy type 1 ? | How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains. |
symptoms | What are the symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ? | What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. 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 electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia affecting the eye 90% Myopia 90% Optic atrophy 90% Visual impairment 90% Nystagmus 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cystoid macular degeneration - Glaucoma - Macular atrophy - Microphthalmia - Nyctalopia - Pigmentary retinal degeneration - Retinal degeneration - Slitlike anterior chamber angles in children - 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 Sjogren-Larsson-like syndrome ? | What are the signs and symptoms of Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-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) Abnormality of the eye - Abnormality of the nervous system - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Hyperkeratosis - 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 Charcot-Marie-Tooth disease with ptosis and parkinsonism ? | What are the signs and symptoms of Charcot-Marie-Tooth disease with ptosis and parkinsonism? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease with ptosis and parkinsonism. 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 atrioventricular conduction - Atrioventricular block - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal loss - Central hypoventilation - Chronic diarrhea - Chronic sensorineural polyneuropathy - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Dementia - Distal amyotrophy - Enhanced neurotoxicity of vincristine - Gliosis - Hyperhidrosis - Hyperreflexia - Nausea - Orthostatic hypotension - Parkinsonism - Penetrating foot ulcers - Peroneal muscle atrophy - Peroneal muscle weakness - Pes cavus - Ptosis - Sensory neuropathy - Trophic limb changes - Vomiting - 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. |
information | What is (are) Von Willebrand disease ? | Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. Milder forms of Von Willebrand disease do not involve spontaneous bleeding, and the disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Symptoms may change over time. Increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns. |
symptoms | What are the symptoms of Von Willebrand disease ? | What are the signs and symptoms of Von Willebrand disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Von Willebrand 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) Aortic valve stenosis - Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Gastrointestinal angiodysplasia - Gastrointestinal hemorrhage - Impaired platelet aggregation - Incomplete penetrance - Joint hemorrhage - Menorrhagia - Mitral valve prolapse - Prolonged bleeding time - Prolonged whole-blood clotting time - Reduced factor VIII 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. |
causes | What causes Von Willebrand disease ? | What causes von Willebrand disease? Von Willebrand disease is typically an inherited disease caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These mutations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected individual (known as a de novo mutation). Another form of the disorder, often considered a separate condition, is called acquired von Willebrand syndrome (AVWS). AVWS is not caused by gene mutations. This condition is typically seen in conjunction with other disorders and usually begins in adulthood. A list of disorders associated with AVWS is available from UpToDate. |
inheritance | Is Von Willebrand disease inherited ? | Is von Willebrand disease always inherited from a parent? Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inherited in an autosomal recessive manner. Most individuals with an autosomal dominant type of VWD have an affected parent. However, some individuals are affected due to having a new (de novo) mutation in the VWF gene that occurred for the first time in the affected individual. If the mutation found in the affected individual cannot be detected in either parent, it is most often due to a de novo mutation but may also be due to germline mosaicism in a parent. Possible non-medical explanations which may be explored include alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption. There is also a separate, rare condition called acquired von Willebrand syndrome (AVWS). This is a mild to moderate bleeding disorder that is typically seen in conjunction with other disorders, such as diseases that affect bone marrow or immune cell function. AVWS is not caused by a mutation in the VWF gene and usually begins in adulthood. |
information | What is (are) Aspergillosis ? | Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. |
treatment | What are the treatments for Aspergillosis ? | How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth. |
information | What is (are) Madelung disease ? | Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. The exact cause of Madelung disease is unknown, but it may be associated with changes (mutations) in mitochondrial DNA and/or alcoholism. Treatment may include medications to correct associated metabolic conditions; surgery or liposuction to remove the lipomas; and avoidance of alcohol. |
symptoms | What are the symptoms of Madelung disease ? | What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years. The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain. In the majority of cases, the disease is benign; however, lipomas can become cancerous in rare circumstances. People with Madelung disease may also develop peripheral neuropathy and neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues. In some cases, it may be associated with other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Madelung 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) Arthralgia 90% Limitation of joint mobility 90% Multiple lipomas 90% Gait disturbance 50% Hepatomegaly 50% Insulin resistance 50% Paresthesia 50% Abnormality of the skin - Autosomal dominant inheritance - Lipoma - Peripheral neuropathy - 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 Madelung disease ? | What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body. |
inheritance | Is Madelung disease inherited ? | Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body. |
exams and tests | How to diagnose Madelung disease ? | How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis. |
treatment | What are the treatments for Madelung disease ? | How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended. |
symptoms | What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ? | What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. 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) Acute infantile spinal muscular atrophy - Autosomal recessive inheritance - Multiple prenatal fractures - 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) Malakoplakia ? | Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney. Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli is the most common organism found in urine samples. Common symptoms of malakoplakia of the kidney include flank pain and signs of active kidney infection. It may affect one or both kidneys and can cause symptoms similar to that of kidney failure.Careful studies of the involved tissues can help to distinguish malakoplakia of the kidney from similar conditions, namely xanthogranulomatous pyelonephritis and megalocytic interstitial nephritis. |
information | What is (are) Dermatomyositis ? | Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterized by chronic muscle inflammation accompanied by muscle weakness. The cardinal symptom is a skin rash that precedes or accompanies progressive muscle weakness. Dermatomyositis may occur at any age, but is most common in adults in their late 40s to early 60s, or children between 5 and 15 years of age. There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The cause of dermatomyositis is unknown. |
symptoms | What are the symptoms of Dermatomyositis ? | What are the signs and symptoms of Dermatomyositis? The signs and symptoms of dermatomyositis may appear suddenly or develop gradually, over weeks or months. The cardinal symptom of dermatomyositis is a skin rash that precedes or accompanies progressive muscle weakness. The rash looks patchy, with bluish-purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, heels, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations, and there may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement. Adults with dermatomyositis may experience weight loss or a low-grade fever, have inflamed lungs, and be sensitive to light. Children and adults with dermatomyositis may develop calcium deposits, which appear as hard bumps under the skin or in the muscle (called calcinosis). Calcinosis most often occurs 1-3 years after the disease begins. These deposits are seen more often in children with dermatomyositis than in adults. In some cases of dermatomyositis, distal muscles (muscles located away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Dermatomyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatomyositis. 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 90% Autoimmunity 90% EMG abnormality 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Abnormal hair quantity 50% Abnormality of the nail 50% Acrocyanosis 50% Arthralgia 50% Arthritis 50% Chondrocalcinosis 50% Dry skin 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Pulmonary fibrosis 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Restrictive lung disease 50% Skin ulcer 50% Weight loss 50% Abnormality of eosinophils 7.5% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cutaneous photosensitivity 7.5% Feeding difficulties in infancy 7.5% Gangrene 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neurological speech impairment 7.5% Ovarian neoplasm 7.5% Pulmonary hypertension 7.5% Telangiectasia of the skin 7.5% Vasculitis 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 Dermatomyositis ? | What causes dermatomyositis? The cause of this disorder is unknown. It is theorized that an autoimmune reaction (reactions caused by an immune response against the body's own tissues) or a viral infection of the skeletal muscle may cause the disease. In addition, some doctors think certain people may have a genetic susceptibility to the disease. |
treatment | What are the treatments for Dermatomyositis ? | How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion. Many individuals with dermatomyositis may need a topical ointment, such as topical corticosteroids, for their skin disorder. They should wear a high-protection sunscreen and protective clothing. Surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections. |
symptoms | What are the symptoms of Fetal akinesia syndrome X-linked ? | What are the signs and symptoms of Fetal akinesia syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal akinesia syndrome X-linked. 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) Agenesis of corpus callosum - Arrhinencephaly - Blepharophimosis - Fetal akinesia sequence - Hypokinesia - Polyhydramnios - Stillbirth - Telecanthus - 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. |
information | What is (are) Craniometaphyseal dysplasia, autosomal recessive type ? | Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities. |
symptoms | What are the symptoms of Craniometaphyseal dysplasia, autosomal recessive type ? | What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal recessive type? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal recessive type. 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 metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of the nasopharynx - Abnormality of the thorax - Autosomal recessive inheritance - Bony paranasal bossing - Broad alveolar ridges - Club-shaped distal femur - Coarse facial features - Delayed eruption of permanent teeth - Facial hyperostosis - Flared metaphysis - Macrocephaly - Mandibular prognathia - Metaphyseal dysplasia - Mixed hearing impairment - Nasal obstruction - Optic atrophy - Patchy sclerosis of finger phalanx - 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 Craniometaphyseal dysplasia, autosomal recessive type ? | What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined. |
treatment | What are the treatments for Craniometaphyseal dysplasia, autosomal recessive type ? | How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes. |
information | What is (are) Congenital primary aphakia ? | Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye. |