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)|
|Abnormality of bone mineral density||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the metacarpal bones||90%|
|Abnormality of the wrist||90%|
|Depressed nasal bridge||90%|
|Abnormality of the fingernails||50%|
|Abnormality of the larynx||50%|
|Abnormality of the sacrum||50%|
|Low-set, posteriorly rotated ears||7.5%|
|Autosomal dominant inheritance||-|
|Broad distal phalanx of finger||-|
|Carpal bone hypoplasia||-|
|Caudal interpedicular narrowing||-|
|Congenital hip dislocation||-|
|Delayed phalangeal epiphyseal ossification||-|
|Dislocated radial head||-|
|Flat capital femoral epiphysis||-|
|Hypoplasia of the capital femoral epiphysis||-|
|Irregular vertebral endplates||-|
|Large joint dislocations||-|
|Long distal phalanx of finger||-|
|Long proximal phalanx of finger||-|
|Narrow femoral neck||-|
|Posterior scalloping of vertebral bodies||-|
|Slender distal phalanx of finger||-|
|Slender proximal phalanx of finger||-|
|Streaky metaphyseal sclerosis||-|
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