The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Camptodactyly of finger||90%|
|Skeletal muscle atrophy||90%|
|Abnormality of dental morphology||50%|
|Clinodactyly of the 5th finger||50%|
|Short distal phalanx of finger||50%|
|Abnormal form of the vertebral bodies||7.5%|
|Abnormality of the antihelix||7.5%|
|Abnormality of the metacarpal bones||7.5%|
|Abnormality of the mitral valve||7.5%|
|Abnormality of the nipple||7.5%|
|Abnormality of the testis||7.5%|
|Abnormality of toe||7.5%|
|Atria septal defect||7.5%|
|Bowing of the long bones||7.5%|
|Hernia of the abdominal wall||7.5%|
|Hypoplasia of penis||7.5%|
|Slender long bone||7.5%|
|Autosomal recessive inheritance||-|
|Dermatoglyphic ridges abnormal||-|
|Elevated serum creatine phosphokinase||-|
|Joint contracture of the hand||-|
|Mitral valve prolapse||-|
|Small hypothenar eminence||-|
|Small thenar eminence||-|
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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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