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)|
|Short distal phalanx of finger||90%|
|Synostosis of carpal bones||90%|
|Abnormality of epiphysis morphology||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the metaphyses||50%|
|Clinodactyly of the 5th finger||50%|
|Symphalangism affecting the phalanges of the hand||50%|
|Hernia of the abdominal wall||7.5%|
|Absent distal phalanx of the 2nd toe||-|
|Aplasia of the distal phalanx of the 2nd finger||-|
|Mild short stature||-|
|Proximal fibular overgrowth||-|
|Short 1st metacarpal||-|
|Short first metatarsal||-|
|Synostosis of carpals/tarsals||-|
|X-linked dominant inheritance||-|
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.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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