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information | What is (are) Weill-Marchesani syndrome ? | Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. Occasionally patients with this condition have heart defects. In some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTPBP2 genes. Weill-Marchesani syndrome can also have autosomal dominant inheritance, and a FBN1 gene mutation has been found in one family. People with this condition usually need regular eye exams and sometimes need eye surgery. |
symptoms | What are the symptoms of Weill-Marchesani syndrome ? | What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childhood and include microspherophakia (small spherical lens), severe nearsightedness (myopia), ectopia lentis (abnormal position of the lens), and glaucoma, all of which can affect vision. Occasionally people with Weill-Marchesani syndrome have heart abnormalities such as pulmonary valve stenosis or ductus arteriosus. Most individuals with Weill-Marchesani syndrome have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Weill-Marchesani syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lens 90% Ectopia lentis 90% Glaucoma 90% Myopia 90% Short stature 90% Short toe 90% Limitation of joint mobility 50% Thickened skin 50% Intellectual disability, mild 11% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Abnormality of dental morphology - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Blindness - Brachycephaly - Brachydactyly syndrome - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanges of the hand - Broad ribs - Broad skull - Cataract - Depressed nasal bridge - Hypoplasia of the maxilla - Joint stiffness - Lumbar hyperlordosis - Misalignment of teeth - Mitral regurgitation - Narrow palate - Patent ductus arteriosus - Proportionate short stature - Pulmonic stenosis - Scoliosis - Severe Myopia - Shallow anterior chamber - Shallow orbits - Spinal canal stenosis - Thin bony cortex - 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 Weill-Marchesani syndrome ? | What causes Weill-Marchesani syndrome? Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2. |
exams and tests | How to diagnose Weill-Marchesani syndrome ? | How is Weill-Marchesani syndrome diagnosed? The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. 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. |
treatment | What are the treatments for Weill-Marchesani syndrome ? | How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists. Regular eye exams are important for early diagnosis of eye problems. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care. Joint stiffness and bone abnormalities can cause complications if anesthesia is needed for a procedure. It is important to inform a physician of the diagnosis before receiving anesthesia, as it can impact airway management. |
information | What is (are) Jejunal atresia ? | Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Common symptoms include feeding difficulties, failure to thrive, vomiting bile (a bitter-tasting yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery. |
symptoms | What are the symptoms of Jejunal atresia ? | What are the signs and symptoms of Jejunal atresia? Signs and symptoms of jejunal atresia vary but may include: Feeding difficulties Failure to thrive Vomiting bile (a bitter-tasting yellowish-green fluid) Abdominal swelling, especially the upper middle part just below the breast bone Absence of bowel movements after birth The Human Phenotype Ontology provides the following list of signs and symptoms for Jejunal atresia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Jejunal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes Jejunal atresia ? | What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Jejunal atresia typically occurs sporadically in people with no family history of the condition. In these cases, the exact underlying cause is generally unknown; however, scientists suspect that it may be a consequence of disrupted blood flow in the developing fetus. Rarely, more than one family member can be affected by jejunal atresia, suggesting that there may be a genetic component in some cases. |
inheritance | Is Jejunal atresia inherited ? | Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner. |
exams and tests | How to diagnose Jejunal atresia ? | How is jejunal atresia diagnosed? In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional testing such as X-rays with or without contrast can then be ordered to confirm the diagnosis. |
treatment | What are the treatments for Jejunal atresia ? | How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated. |
information | What is (are) Parkinson disease ? | Parkinson disease belongs to a group of conditions called movement disorders. The four main symptoms are tremor, or trembling in hands, arms, legs, jaw, or head; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance. These symptoms usually begin gradually and worsen with time. As they become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. Not everyone with one or more of these symptoms has Parkinson disease, as the symptoms sometimes appear in other diseases as well. Parkinson disease affects about 1 to 2 percent of people over the age of 60 years and the chance of developing Parkinson disease increases as we age. Although some Parkinson disease cases appear to be hereditary most cases are sporadic and occur in people with no apparent history of the disorder in their family. When three or more people are affected in a family, especially if they are diagnosed at an early age (under 50 years) there may be a gene making this family more likely to develop the condition. Currently, seven genes that cause some form of Parkinson's disease have been identified. Mutations (changes) in three known genes called SNCA (PARK1),UCHL1 (PARK 5), and LRRK2 (PARK8) and another mapped gene (PARK3) have been reported in families with dominant inheritance. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6) have been found in affected individuals who had siblings with the condition but whose parents did not have Parkinson's disease (recessive inheritance). There is some research to suggest that these genes are also involved in early-onset Parkinson's disease (diagnosed before the age of 30) or in dominantly inherited Parkinson's disease but it is too early yet to be certain. However, in most cases inheriting a mutation will not cause someone to develop Parkinson's disease because there may be additional genes and environmental factors determining who will get the condition, when they get it and how it affects them. |
symptoms | What are the symptoms of Parkinson disease ? | What are the signs and symptoms of Parkinson disease? A number of disorders can cause symptoms similar to those of Parkinson disease. People with symptoms that resemble Parkinson disease but that result from other causes are sometimes said to have parkinsonism. Some of these disorders are listed below. Postencephalitic parkinsonism Drug-induced parkinsonism Toxin-induced parkinsonism Arteriosclerotic parkinsonism Parkinsonism-dementia complex of Guam Post-traumatic parkinsonism Essential tremor Normal pressure hydrocephalus Progressive supranuclear palsy Corticobasal degeneration Multiple system atrophy Dementia with Lewy bodies More information on each of these conditions is available in the National Institute of Neurological Disorders and Stroke (NINDS) publication, Parkinson's Disease: Hope Through Research. Parkinsonian symptoms may also appear in patients with other, clearly distinct neurological disorders such as Wilson disease, Huntington disease, Alzheimer disease, spinocerebellar ataxias, and Creutzfeldt-Jakob disease. Each of these disorders has specific features that help to distinguish them from Parkinson disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Parkinson 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) Dysautonomia 7.5% Hallucinations 7.5% Bradykinesia - Constipation - Dementia - Depression - Dysarthria - Dysphagia - Dystonia - Insidious onset - Lewy bodies - Mask-like facies - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Postural instability - Progressive - Resting tremor - Rigidity - Short stepped shuffling gait - Sleep disturbance - Substantia nigra gliosis - Urinary urgency - Weak voice - 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 Parkinson disease ? | What causes Parkinson disease? Parkinson disease occurs when the nerve cells in the brain that make dopamine, a chemical messenger which transmits signals within the brain to produce smooth physical movements, are slowly destroyed. Without dopamine, the nerve cells in the part of the brain known as the substantia nigra cannot properly send messages. This leads to progressive loss of muscle function. Exactly why these brain cells waste away is unknown. Recent studies have shown that people with Parkinson disease also experience damage to the nerve endings that produce the neurotransmitter norepinephrine. Norepinephrine, which is closely related to dopamine, is the main chemical messenger of the sympathetic nervous system, the part of the nervous system that controls the automatic functions of the body, including pulse and blood pressure. The loss of norepinephrine may explain some of the non-motor features seen in Parkinson disease, including fatigue and problems with blood pressure regulation. More detailed information about the cause of Parkinson disease is available through an information page developed by the National Institute of Neurological Disorders and Stroke (NINDS). Click here to view this information. |
inheritance | Is Parkinson disease inherited ? | Is Parkinson disease inherited? Most cases of Parkinson disease are classified as sporadic and occur in people with no apparent history of the disorder in their family. Although the cause of these cases remains unclear, sporadic cases probably result from a complex interaction of environmental and genetic factors. Additionally, certain drugs may cause Parkinson-like symptoms. Approximately 15 percent of people with Parkinson disease have a family history of the disorder. These familial cases are caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not yet been identified. Mutations in some of these genes may also play a role in cases that appear to be sporadic. It is not fully understood how mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene cause Parkinson disease. Some mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins. As a result, un-degraded proteins accumulate, leading to the impairment or death of dopamine-producing neurons. Other mutations may involve mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules, called free radicals, that can damage the cell. Normally, the cell neutralizes free radicals, but some gene mutations may disrupt this neutralization process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons. In some families, alterations in the GBA, SNCAIP, or UCHL1 gene appear to modify the risk of developing Parkinson disease. Researchers have identified some genetic changes that may reduce the risk of developing the disease, while other gene alterations seem to increase the risk. |
exams and tests | How to diagnose Parkinson disease ? | How is Parkinson disease diagnosed? There are currently no blood or laboratory tests that have been proven to help diagnose sporadic cases of Parkinson disease. The diagnosis is generally made after careful evaluation of medical history, current symptoms, and exclusion of other conditions. The clinical findings of tremor, rigidity, and bradykinesia are highly suggestive of Parkinson disease. The genetic cause of some forms of Parkinson disease has been identified. In those cases, genetic testing may be utilized to identify affected family members. |
information | What is (are) Limb-girdle muscular dystrophy, type 2C ? | Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms. |
symptoms | What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. 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 - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Limb-girdle muscular dystrophy, type 2C ? | What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders |
symptoms | What are the symptoms of Bardet-Biedl syndrome 11 ? | What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 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 - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - 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 Pyridoxal 5'-phosphate-dependent epilepsy ? | What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Decreased CSF homovanillic acid (HVA) - Encephalopathy - Failure to thrive - Feeding difficulties in infancy - Hypoglycemia - Increased serum lactate - Metabolic acidosis - Muscular hypotonia of the trunk - Myoclonus - Premature birth - Progressive microcephaly - Seizures - 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) Joubert syndrome ? | Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner. Rarely it may be inherited in an X-linked recessive manner. Treatment is supportive and depends on the symptoms in each person. |
symptoms | What are the symptoms of Joubert syndrome ? | What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open 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. |
causes | What causes Joubert syndrome ? | What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems. |
inheritance | Is Joubert syndrome inherited ? | How is Joubert syndrome inherited? Joubert syndrome is predominantly 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers. |
information | What is (are) Glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern. |
symptoms | What are the symptoms of Glutamate formiminotransferase deficiency ? | What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - 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 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ? | What are the signs and symptoms of Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive. 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) Arthritis - Autosomal recessive inheritance - B lymphocytopenia - Conjunctivitis - Diarrhea - Failure to thrive - Failure to thrive secondary to recurrent infections - Mastoiditis - Meningitis - Otitis media - Panhypogammaglobulinemia - Pneumonia - Recurrent opportunistic infections - Severe combined immunodeficiency - Severe T lymphocytopenia - 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) VIPoma ? | VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and low blood potassium (hypokalemia). VIPomas are usually diagnosed in adults around age 50. The cause of VIPoma is unknown. Treatment may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. |
treatment | What are the treatments for VIPoma ? | How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency ablation, or hepatic artery embolization. |
information | What is (are) Talipes equinovarus ? | Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct position and using a cast to keep it there. This process is done in small increments over a period of time. In severe cases, surgery may be needed. |
symptoms | What are the symptoms of Talipes equinovarus ? | What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. 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) Foot polydactyly 5% Patellar hypoplasia 5% Autosomal dominant inheritance - Incomplete penetrance - Talipes equinovarus - 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) Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother. |
symptoms | What are the symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | What are the signs and symptoms of Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes? The signs and symptoms of MELAS often appear in childhood following a period of normal development. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes may involve temporary muscle weakness on one side of the body, altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function. Many people with MELAS have a buildup of lactic acid in their bodies (lactic acidosis). This can lead to vomiting, abdominal pain, extreme fatigue, muscle weakness, and difficulty breathing. Involuntary muscle spasms, impaired muscle coordination, hearing loss, heart and kidney problems, diabetes, and hormonal imbalances may also occur. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. 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 mitochondrial metabolism 90% Cerebral ischemia 90% Developmental regression 90% EMG abnormality 90% Hemiplegia/hemiparesis 90% Migraine 90% Muscle weakness 90% Myopathy 90% Abdominal pain 50% Amaurosis fugax 50% Anorexia 50% Aplasia/Hypoplasia of the cerebellum 50% Attention deficit hyperactivity disorder 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Decreased body weight 50% Decreased nerve conduction velocity 50% Hallucinations 50% Incoordination 50% Involuntary movements 50% Memory impairment 50% Nausea and vomiting 50% Pancreatitis 50% Ptosis 50% Reduced consciousness/confusion 50% Respiratory insufficiency 50% Sensorineural hearing impairment 50% Short stature 50% Type II diabetes mellitus 50% Visual field defect 50% Abnormality of neuronal migration 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of temperature regulation 7.5% Abnormality of the genital system 7.5% Abnormality of the liver 7.5% Abnormality of the macula 7.5% Abnormality of the pinna 7.5% Abnormality of the renal tubule 7.5% Abnormality of visual evoked potentials 7.5% Anterior hypopituitarism 7.5% Aortic dilatation 7.5% Aortic dissection 7.5% Apnea 7.5% Autism 7.5% Carious teeth 7.5% Cataract 7.5% Congestive heart failure 7.5% Constipation 7.5% Delayed skeletal maturation 7.5% EEG abnormality 7.5% Feeding difficulties in infancy 7.5% Gingival overgrowth 7.5% Glomerulopathy 7.5% Goiter 7.5% Hypercalciuria 7.5% Hypertelorism 7.5% Hypertension 7.5% Hyperthyroidism 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypopigmented skin patches 7.5% Hypothyroidism 7.5% Ichthyosis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Mask-like facies 7.5% Microcephaly 7.5% Multiple lipomas 7.5% Muscular hypotonia 7.5% Myalgia 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Nyctalopia 7.5% Ophthalmoparesis 7.5% Optic atrophy 7.5% Paresthesia 7.5% Premature loss of teeth 7.5% Primary adrenal insufficiency 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Renal insufficiency 7.5% Skeletal muscle atrophy 7.5% Spontaneous hematomas 7.5% Sudden cardiac death 7.5% Thyroiditis 7.5% Tremor 7.5% Type I diabetes mellitus 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Bilateral sensorineural hearing impairment - Congenital cataract - Cortical visual impairment - Dementia - Diabetes mellitus - Encephalopathy - Episodic vomiting - Generalized tonic-clonic seizures - Growth abnormality - Hemianopia - Hemiparesis - Lactic acidosis - Left ventricular hypertrophy - Mitochondrial inheritance - Mitochondrial myopathy - Ophthalmoplegia - Progressive sensorineural hearing impairment - Ragged-red muscle fibers - Stroke-like episodes - Wolff-Parkinson-White syndrome - 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 Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes inherited ? | How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes in mtDNA. Mitochondria are structures in each cell that turn molecules into energy, and each contain a small amount of DNA. Only egg cells (not sperm cells) contribute mitochondria to offspring, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mtDNA can appear in every generation of a family and can affect both males and females. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the condition results from a new mutation in a mitochondrial gene and occurs in an individual with no history of MELAS in the family. |
exams and tests | How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon to send DNA samples to a laboratory in another state, or even to laboratories in Canada or Europe. Genetic tests are more complicated than standard blood tests and are usually much more expensive. Due to the high cost of these tests, insurance companies may or may not provide coverage. Doctors sometimes write a letter of medical necessity to the insurance company stating why a particular test is needed, which sometimes pursuades the insurance company to cover the test. These letters state the medical benefits that a person would receive from a test, and how the test would alter a person's medical care. GeneTests lists the names of laboratories that perform genetic testing. This resource lists the contact information for the clinical laboratories conducting genetic testing for MELAS. Another option is to participate in a research study that is performing genetic testing. While the cost of testing is often covered by the research funding, the tests may be more experimental and less accurate. In addition, results may not be reported to participants, or it may take a much longer time to receive any results. To access the contact information for the research laboratory performing genetic testing for mitochondrial disorders (including MELAS), click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. |
symptoms | What are the symptoms of Dens in dente and palatal invaginations ? | What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. 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 - Dens in dente - 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 5 ? | What are the signs and symptoms of Bardet-Biedl syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 5. 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. |
information | What is (are) Chiari malformation type 2 ? | Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations. |
symptoms | What are the symptoms of Chiari malformation type 2 ? | What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum 33% Arnold-Chiari malformation - Ataxia - Bulbar signs - Cervical myelopathy - Cyanosis - Dysphagia - Feeding difficulties - Heterotopia - Hydrocephalus - Inspiratory stridor - Limb muscle weakness - Multifactorial inheritance - Muscular hypotonia - Nystagmus - Occipital neuralgia - Opisthotonus - Spina bifida - 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 Chiari malformation type 2 inherited ? | Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele. |
information | What is (are) Hereditary elliptocytosis ? | Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage. |
symptoms | What are the symptoms of CODAS syndrome ? | What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS 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 form of the vertebral bodies 90% Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cataract 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Malar flattening 90% Midline defect of the nose 90% Overfolded helix 90% Short nose 90% Short stature 90% Abnormality of the hip bone 50% Joint hypermobility 50% Muscular hypotonia 50% Ptosis 50% Scoliosis 50% Sensorineural hearing impairment 50% Abnormality of the upper urinary tract 7.5% Extrahepatic biliary duct atresia 7.5% Nystagmus 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Vocal cord paresis 7.5% Anal atresia 5% Cryptorchidism 5% Omphalocele 5% Proximal placement of thumb 5% Rectovaginal fistula 5% Seizures 5% Atria septal defect - Atrioventricular canal defect - Autosomal recessive inheritance - Broad skull - Congenital cataract - Congenital hip dislocation - Coronal cleft vertebrae - Delayed ossification of carpal bones - Genu valgum - Hypoplasia of dental enamel - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Metaphyseal dysplasia - Polyhydramnios - Short humerus - Short metacarpal - Short phalanx of finger - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Lujan syndrome ? | Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures. |
symptoms | What are the symptoms of Lujan syndrome ? | What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan 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 palate 90% Abnormality of the voice 90% Cognitive impairment 90% Disproportionate tall stature 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Scoliosis 90% Aplasia/Hypoplasia of the corpus callosum 50% Arachnodactyly 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Macroorchidism 50% Narrow face 50% Pectus excavatum 50% Prominent nasal bridge 50% Short philtrum 50% Abnormality of calvarial morphology 7.5% Abnormality of the pinna 7.5% Abnormality of the teeth 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Hallucinations 7.5% Low-set, posteriorly rotated ears 7.5% Seizures 7.5% Abnormality of the genitourinary system - Abnormality of the rib cage - Abnormally folded helix - Agenesis of corpus callosum - Aggressive behavior - Ascending aortic aneurysm - Autism - Broad thumb - Deep philtrum - Dental crowding - Emotional lability - Flexion contracture - Frontal bossing - Generalized hypotonia - High palate - Hyperactivity - Hypoplasia of the maxilla - Impaired social interactions - Intellectual disability - Joint laxity - Long face - Long nose - Low frustration tolerance - Low-set ears - Narrow nasal bridge - Nasal speech - Obsessive-compulsive behavior - Open mouth - Prominent forehead - Psychosis - Ventricular septal defect - 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) Psoriatic juvenile idiopathic arthritis ? | Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. |
information | What is (are) MYH-associated polyposis ? | MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene. |
symptoms | What are the symptoms of MYH-associated polyposis ? | What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. 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) Colon cancer 5/12 Adenomatous colonic polyposis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
causes | What causes MYH-associated polyposis ? | What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer. |
information | What is (are) Chromosome 4p deletion ? | Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. 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 4p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. |
information | What is (are) Lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern. |
symptoms | What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ? | What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. 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% Coarse hair 90% Hypermetropia 90% Nystagmus 90% Optic atrophy 90% Photophobia 90% Synophrys 90% Thick eyebrow 90% Visual impairment 90% Autosomal recessive inheritance - Congenital visual impairment - Hirsutism - Retinal dystrophy - 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 Primary melanoma of the central nervous system ? | What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma. |
symptoms | What are the symptoms of Ichthyosis, acquired ? | What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dry skin 90% Ichthyosis 90% Pruritus 90% Immunologic hypersensitivity 50% Palmoplantar keratoderma 50% Skin ulcer 50% Autoimmunity 7.5% Lymphoma 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Sarcoma 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Celiac artery compression syndrome ? | Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). The cause is not fully understood; however, it is suspected that there could be a combination of vascular (blood supply) and neurogenic (neurological) components involved. Diagnosis is usually confirmed with imaging such as CT angiography, MRI, ultrasound, and arteriography.Surgery is currently the only treatment option and involves releasing the ligament. |
symptoms | What are the symptoms of Celiac artery compression syndrome ? | What are the signs and symptoms of celiac artery compression syndrome? Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). One review found that abdominal pain is the most common symptom, found to be present in approximately 80% of individuals, while weight loss was found in approximately 48% and abdominal bruit was appreciated in approximately 35%. Other symptoms include: nausea, diarrhea, vomiting, and delayed gastric emptying. |
causes | What causes Celiac artery compression syndrome ? | What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm), other factors have been proposed. It has been suggested that nerve dysfunction might additionally be involved, which could explain some of the associated symptoms such as pain and delayed gastric emptying. |
exams and tests | How to diagnose Celiac artery compression syndrome ? | How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). Abdominal imaging is used to confirm the diagnosis and rule out other similarly presenting disorders. Imaging methodologies might include: CT angiography, MRI, ultrasound, and arteriography. |
treatment | What are the treatments for Celiac artery compression syndrome ? | How might celiac artery compression syndrome be treated? Surgery is currently the only treatment option for celiac artery compression syndrome. Surgery typically involves decompression of the celiac artery by dividing the fibers of the median arcuate ligament and celiac plexus (network of nerves in the abdomen). Surgical decompression might additionally be combined with stent placement, angioplasty, or vascular reconstruction of the celiac artery. |
symptoms | What are the symptoms of Supraumbilical midabdominal raphe and facial cavernous hemangiomas ? | What are the signs and symptoms of Supraumbilical midabdominal raphe and facial cavernous hemangiomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Supraumbilical midabdominal raphe and facial cavernous hemangiomas. 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 nipple 90% Atypical scarring of skin 90% Cavernous hemangioma 90% Hernia of the abdominal wall 50% Strabismus 50% Autosomal dominant inheritance - Cavernous hemangioma of the 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. |
information | What is (are) Familial dermographism ? | Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own. |
symptoms | What are the symptoms of Familial dermographism ? | What are the signs and symptoms of Familial dermographism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dermographism. 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 - Dermatographic urticaria - 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 Brachycephalofrontonasal dysplasia ? | What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Highly arched eyebrow 90% Hypertelorism 90% Long philtrum 90% Prominent nasal bridge 90% Thick eyebrow 90% Thin vermilion border 90% Abnormality of periauricular region 50% Abnormality of the helix 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Finger syndactyly 50% Frontal bossing 50% High anterior hairline 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Round face 50% Shawl scrotum 50% Short nose 50% Short toe 50% Umbilical hernia 50% Abnormal localization of kidney 7.5% Advanced eruption of teeth 7.5% Arrhythmia 7.5% Atria septal defect 7.5% Chin dimple 7.5% Female pseudohermaphroditism 7.5% Omphalocele 7.5% Oral cleft 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Proptosis 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad palm - Depressed nasal bridge - Prominent forehead - Wide nasal bridge - Widow's peak - 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 Spondylometaphyseal dysplasia Sedaghatian type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia Sedaghatian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Sedaghatian 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) Brachydactyly syndrome 90% Delayed skeletal maturation 90% Platyspondyly 90% Sprengel anomaly 90% Sudden cardiac death 90% Narrow chest 50% Accelerated skeletal maturation 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% 11 pairs of ribs - Atria septal defect - Autosomal recessive inheritance - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Cupped ribs - Delayed epiphyseal ossification - Depressed nasal bridge - Flared iliac wings - Flat acetabular roof - Focal lissencephaly - Iliac crest serration - Irregular tarsal bones - Large posterior fontanelle - Long fibula - Metaphyseal cupping - Metaphyseal irregularity - Muscular hypotonia - Narrow greater sacrosciatic notches - Porencephaly - Posteriorly rotated ears - Redundant skin - Rhizomelia - Short finger - Short long bone - Short metacarpal - Short neck - Short phalanx of finger - Short ribs - Short toe - Spondylometaphyseal dysplasia - Talipes equinovarus - Turricephaly - Widened sacrosciatic notch - 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) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a "moth-eaten" appearance of the skeleton, flat vertebral bodies and ectopic calcifications. HEM is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. No treatment or cure is currently known for HEM. |
symptoms | What are the symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What are the signs and symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia? The diagnostic findings of HEM (hydrops fetalis, severe micromelia, and ectopic calcification) have been present in all cases reported in the medical literature thus far. The following are several of the other signs and symptoms that have been reported in some patients with HEM : Polydactyly (presence of more than 5 fingers on the hands or 5 toes on the feet) Reduced number of ribs Omphalocele Intestinal malformation Abnormal fingernails Less than normal number of lobes in the lung (hypolobated lungs) Cystic hygroma The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Abnormality of erythrocytes 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Limb undergrowth 90% Lymphedema 90% Short stature 90% Decreased skull ossification 50% Malar flattening 50% Narrow chest 50% Skull defect 50% Toxemia of pregnancy 50% 11 pairs of ribs - Abnormal foot bone ossification - Abnormal joint morphology - Abnormal lung lobation - Abnormal ossification involving the femoral head and neck - Abnormal pelvis bone ossification - Abnormality of cholesterol metabolism - Abnormality of the calcaneus - Abnormality of the scapula - Abnormality of the vertebral spinous processes - Absent or minimally ossified vertebral bodies - Absent toenail - Anterior rib punctate calcifications - Autosomal recessive inheritance - Barrel-shaped chest - Bone marrow hypocellularity - Bowing of the long bones - Broad palm - Cardiomegaly - Cystic hygroma - Depressed nasal bridge - Diaphyseal thickening - Disproportionate short-limb short stature - Epiphyseal stippling - Extramedullary hematopoiesis - Flared metaphysis - Hepatic calcification - Hepatomegaly - Hepatosplenomegaly - High forehead - Horizontal sacrum - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic fingernail - Hypoplastic vertebral bodies - Intestinal malrotation - Laryngeal calcification - Lethal skeletal dysplasia - Long clavicles - Low-set ears - Macrocephaly - Mesomelia - Metaphyseal cupping - Micromelia - Misalignment of teeth - Multiple prenatal fractures - Neonatal death - Nonimmune hydrops fetalis - Omphalocele - Pancreatic islet-cell hyperplasia - Patchy variation in bone mineral density - Pleural effusion - Polyhydramnios - Postaxial foot polydactyly - Postaxial hand polydactyly - Pulmonary hypoplasia - Punctate vertebral calcifications - Rhizomelia - Sandal gap - Sclerosis of skull base - Severe hydrops fetalis - Short diaphyses - Short phalanx of finger - Short ribs - Sternal punctate calcifications - Stillbirth - Supernumerary vertebral ossification centers - Tracheal calcification - Ulnar deviation of the hand - 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 Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is said to be inherited in an autosomal recessive pattern. The presence of two mutated copies of the LBR gene may affect the structure of the nucleus of the cell as well. |
exams and tests | How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. |
information | What is (are) Intellectual disability-developmental delay-contractures syndrome ? | Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive. |
symptoms | What are the symptoms of Intellectual disability-developmental delay-contractures syndrome ? | What are the signs and symptoms of Intellectual disability-developmental delay-contractures syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability-developmental delay-contractures 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 movement 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Limitation of joint mobility 90% Neurological speech impairment 90% Ophthalmoparesis 90% Skeletal muscle atrophy 90% Kyphosis 7.5% Ptosis 7.5% Scoliosis 7.5% Strabismus 7.5% Oculomotor apraxia 5% Apnea - Apraxia - Areflexia - Broad alveolar ridges - Camptodactyly - Cerebral atrophy - Congenital foot contractures - Congenital onset - Decreased fetal movement - Delayed myelination - Delayed speech and language development - Distal amyotrophy - Drooling - Dystonia - Facial palsy - Feeding difficulties - High anterior hairline - High palate - Hip dislocation - Hyperlordosis - Intellectual disability, mild - Long philtrum - Low-set ears - Muscular hypotonia - Narrow chest - Neonatal respiratory distress - Proximal placement of thumb - Retrognathia - Seizures - Short neck - Short stature - Smooth philtrum - Spasticity - Talipes equinovarus - Upslanted palpebral fissure - U-Shaped upper lip vermilion - 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. |
inheritance | Is Intellectual disability-developmental delay-contractures syndrome inherited ? | How is intellectual disability-developmental delay-contractures syndrome inherited? Intellectual disability-developmental delay-contractures syndrome syndrome is inherited in an X-linked recessive manner and is caused by mutations in the ZC4H2 gene. A condition is considered X-linked if the gene with the mutation that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. As such, males are affected by X-linked recessive disorders much more frequently than females. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Rarely, female carriers of a ZC4H2 gene mutation have been reported to exhibit mild symptoms. |
symptoms | What are the symptoms of Alveolar capillary dysplasia ? | What are the signs and symptoms of Alveolar capillary dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alveolar capillary dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 90% Respiratory insufficiency 90% Hypoplastic left heart 50% Intestinal malrotation 50% Patent ductus arteriosus 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the aorta 7.5% Abnormality of the aortic valve 7.5% Abnormality of the gallbladder 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the spleen 7.5% Abnormality of the upper urinary tract 7.5% Aganglionic megacolon 7.5% Annular pancreas 7.5% Atria septal defect 7.5% Complete atrioventricular canal defect 7.5% Duodenal stenosis 7.5% Single umbilical artery 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormal lung lobation - Abnormality of the pulmonary veins - Autosomal recessive inheritance - Duodenal atresia - Hydronephrosis - Hydroureter - Hypertension - Meckel diverticulum - Neonatal death - Polyhydramnios - Pulmonary insufficiency - Right-to-left shunt - 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) Pityriasis lichenoides chronica ? | Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may be present at any one time. Patients with this condition often have exacerbations and relapses of the condition, which can last for months or years. |
symptoms | What are the symptoms of Pityriasis lichenoides chronica ? | What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several weeks, the spot flattens out spontaneously and leaves behind a brown mark, which fades over several months. Pityriasis lichenoides chronica most commonly occurs over the trunk, buttocks, arms and legs, but may also occur on the hands, feet, face and scalp. Unlike the acute type of pityriasis lichenoides, lesions associated with pityriasis lichenoides chronica are not painful, itchy or irritating. What symptoms are associated with pityriasis lichenoides chronica (PLC)? PLC is the milder form of pityriasis lichenoides, and the lesions associated with this form consist of small, firm, red-brown spots. Unlike PLEVA, the lesions are not irritating and have mica-like adherent scale, which can be scraped off to reveal a shiny brown surface. The spot flattens out over several weeks to leave a brown mark which fades over several months. PLC can look like psoriasis, lichen planus, or insect bites. |
exams and tests | How to diagnose Pityriasis lichenoides chronica ? | How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is most often involved in the diagnosis and care of patients with this condition. |
treatment | What are the treatments for Pityriasis lichenoides chronica ? | How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure Topical steroids Topical immunomodulators such as tacrolimus or pimecrolimus Oral antibiotics such as erythromycin and tetracycline Second-line therapies may include: Phototherapy artificial ultraviolet radiation treatment with UVB or PUVA Third-line therapies may include: Systemic steroids Methotrexate Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic. |
information | What is (are) Patulous Eustachian Tube ? | Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. Major symptoms include distorted autophony (hearing one's own voice or breathing), echoing which may interfere with speech production, wave-like sounds, and a sensation of fullness in the ear. In severe cases, vertigo and hearing loss may occur. Over time, individuals with patulous eustachian tube may develop serious and even extreme responses to the abnormal sounds and other findings. In most cases, the cause of patulous eustachian tube is unknown. Weight loss and pregnancy may be predisposing factors. Neurologic disorders that cause muscle atrophy such as stroke, multiple sclerosis, and motor neuron disease have been implicated in some cases of patulous eustachian tube. Other cases may be associated with medications such as oral contraceptives or diuretics. Other predisposing factors include fatigue, stress, anxiety, exercise, and temporomandibular joint syndrome. |
treatment | What are the treatments for Patulous Eustachian Tube ? | How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They may also be advised to avoid diuretics and/or increase weight. Medications which have been shown to work in some patients include nasal sprays containing anticholinergics, estrogen, diluted hydrochloric acid, chlorobutanol, or benzyl alcohol. Surgical treatment may be indicated in some cases. Information detailing treatment options can be accessed through Medscape Reference. |
information | What is (are) Tylosis with esophageal cancer ? | Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. |
symptoms | What are the symptoms of Tylosis with esophageal cancer ? | What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. Esophageal carcinoma usually develops in the lower two-thirds of the esophagus at an average age of 45 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Tylosis with esophageal cancer. 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 intestine 90% Esophageal neoplasm 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Palmoplantar keratoderma 90% Abnormality of the mediastinum 50% Ascites 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Weight loss 50% Clubbing of toes 7.5% Vocal cord paresis 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Diffuse palmoplantar hyperkeratosis - Esophageal carcinoma - Parakeratosis - 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 Tylosis with esophageal cancer ? | What causes Tylosis with esophageal cancer? Mutations in the RHBDF2 gene have been shown to cause the development of this condition. |
inheritance | Is Tylosis with esophageal cancer inherited ? | How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition. |
treatment | What are the treatments for Tylosis with esophageal cancer ? | How might Tylosis with esophageal cancer be treated? Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. Topical therapies may include soaking in salt water and then gentle removal of dead tissue (debridement) and 50% propylene glycol in water under plastic dressing overnight weekly. |
information | What is (are) Light chain deposition disease ? | Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposited in many different tissues and organs of the body. While LCDD can occur in any organ, the kidneys are always involved. Deposits of light chains can also occur in the liver, heart, small intestine, spleen, skin, nervous system and bone marrow. Additionally, about 50-60% of patients with LCDD have multiple myeloma and 17% have a disease called monoclonal gammopathy of unknown significance (MGUS). Early signs and symptoms of light chain deposition disease may include protein in the urine, high blood pressure, decreased kidney function, and nephrotic syndrome. The goal of treatment in patients with LCDD is to stop/decrease the production of light chains and damage to organs. Treatment options can include: autologous stem cell transplantation; a drug called Bortezomib; a class of drugs called immunomodulatory drugs; and kidney transplant. |
inheritance | Is Light chain deposition disease inherited ? | Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined significance at the following links to the MayoClinic.com Website. Multiple myeloma risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors Monoclonal gammopathy of undetermined significance risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors |
symptoms | What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? | What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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 Bjornstad syndrome ? | What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad 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% Aplasia/Hypoplasia of the eyebrow 90% Hypertrichosis 90% Pili torti 90% Sensorineural hearing impairment 90% Alopecia 50% Intellectual disability 5% Anhidrosis - Autosomal recessive inheritance - Brittle hair - Coarse hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypogonadism - Variable expressivity - 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 Spondyloepimetaphyseal dysplasia X-linked ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia 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) Anterior wedging of T11 - Anterior wedging of T12 - Brachydactyly syndrome - Broad long bone diaphyses - Broad metacarpals - Broad phalanx - Cone-shaped epiphyses fused within their metaphyses - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Disproportionate short-trunk short stature - Flat acetabular roof - Hypoplasia of the maxilla - Hypoplasia of the odontoid process - Kyphosis - Limited elbow extension - Long fibula - Long ulna - Metaphyseal irregularity - Narrow pelvis bone - Pectus carinatum - Platyspondyly - Posterior rib cupping - Prominent styloid process of ulna - Radial deviation of the hand - Short clavicles - Short foot - Short long bone - Short metacarpal - Short palm - Short phalanx of finger - Spondyloepimetaphyseal dysplasia - 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) Warfarin sensitivity ? | Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a "blood-thinning" medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to experience an overdose or other serious side effects from the medication. They may experience abnormal bleeding in the brain, gastrointestinal tract, or other tissues even at average doses. The metabolism of warfarin and the drug's effects in the body are complex traits that are determined by several genes as well as environmental and lifestyle factors such as gender, age, weight, diet, and other medications. Two specific genetic polymorphisms in the CYP2C9 and VKORC1 genes account for approximately 30-40% of variation in the response to warfarin and can be passed on to future generations in an autosomal dominant manner. |
symptoms | What are the symptoms of Warfarin sensitivity ? | What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Graham Boyle Troxell syndrome ? | What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell 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) Hypertension 90% Multicystic kidney dysplasia 90% Pulmonary fibrosis 90% Recurrent respiratory infections 50% Respiratory insufficiency 50% 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 Chondrocalcinosis 1 ? | What are the signs and symptoms of Chondrocalcinosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chondrocalcinosis - Osteoarthritis - 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 Paget disease of bone, familial ? | What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, 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) Hearing impairment 5% Autosomal dominant inheritance - Bone pain - Elevated alkaline phosphatase - Fractures of the long bones - Osteosarcoma - Patchy osteosclerosis - 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) Kallmann syndrome ? | Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with undescended testicles or an unusually small penis. Untreated adult males may have decreased bone density and muscle mass; decreased testicular volume; erectile dysfunction; diminished libido; and infertility. Untreated adult females almost always have absent menstruation with normal, little, or no breast development. In rare cases, features may include failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic but some types are familial. The inheritance pattern differs depending on the genetic cause. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases. |
symptoms | What are the symptoms of Kallmann syndrome ? | What are the signs and symptoms of Kallmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann 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 sense of smell 90% Anterior hypopituitarism 90% Decreased fertility 90% Erectile abnormalities 90% Hypoplasia of penis 90% Abnormality of the voice 50% Breast aplasia 50% Cryptorchidism 50% Primary amenorrhea 50% Reduced bone mineral density 50% Abnormality of color vision 7.5% Cleft palate 7.5% Delayed skeletal maturation 7.5% Gait disturbance 7.5% Gynecomastia 7.5% Hemiplegia/hemiparesis 7.5% Ichthyosis 7.5% Incoordination 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Obesity 7.5% Pes cavus 7.5% Ptosis 7.5% Recurrent fractures 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Skeletal dysplasia 7.5% Tremor 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. |
inheritance | Is Kallmann syndrome inherited ? | How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. KS due to mutations in the FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively) is predominantly inherited in an autosomal dominant manner. KS due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner. In the majority of people with KS, the family history appears to be negative (the condition occurs sporadically). However, affected people are still at risk to pass the disease-causing mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in the affected person and may be up to 50%. People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about specific features present or absent in all family members can help determine the mode of inheritance present. |
information | What is (are) Leber hereditary optic neuropathy ? | Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. |
symptoms | What are the symptoms of Leber hereditary optic neuropathy ? | What are the signs and symptoms of Leber hereditary optic neuropathy? Blurring and clouding of vision are usually the first symptoms of this disorder. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months. Over time, vision in both eyes worsens, often leading to severe loss of sharpness (visual acuity) and color vision. This condition mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In rare cases, other symptoms may occur such as heart arrhythmias and neurologic abnormalities (e.g., postural tremor, peripheral neuropathy, nonspecific myopathy, movement disorders), and a multiple sclerosis-like disorder. However, a significant percentage of people with a mutation that causes Leber hereditary optic neuropathy do not develop any features of the disorder. Specifically, more than 50 percent of males with a mutation and more than 85 percent of females with a mutation never experience vision loss or related medical problems. Additional factors may determine whether a person develops the signs and symptoms of this disorder. Environmental factors such as smoking and alcohol use may be involved, although studies of these factors have produced conflicting results. Researchers are also investigating whether changes in additional genes, particularly genes on the X chromosome, contribute to the development of signs and symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy. 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) Optic neuropathy 33% Arrhythmia - Ataxia - Central retinal vessel vascular tortuosity - Centrocecal scotoma - Dystonia - Heterogeneous - Incomplete penetrance - Leber optic atrophy - Mitochondrial inheritance - Myopathy - Optic atrophy - Polyneuropathy - Postural tremor - Visual loss - 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 Leber hereditary optic neuropathy ? | What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy. |
inheritance | Is Leber hereditary optic neuropathy inherited ? | How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children. |