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 the metacarpal bones||90%|
|Aplasia/Hypoplasia of the distal phalanges of the toes||90%|
|Short distal phalanx of finger||90%|
|Abnormality of thumb phalanx||7.5%|
|Preaxial foot polydactyly||7.5%|
|Symphalangism affecting the phalanges of the hand||7.5%|
|Synostosis of carpal bones||7.5%|
|Cutaneous finger syndactyly||5%|
|Abnormality of the foot||-|
|Aplasia/Hypoplasia of the distal phalanges of the hand||-|
|Autosomal dominant inheritance||-|
|Delayed cranial suture closure||-|
|Delayed eruption of permanent teeth||-|
|Joint contracture of the hand||-|
|Short long bone||-|
|Short middle phalanx of finger||-|
|Type B brachydactyly||-|
|Ventricular septal defect||-|
|Wide anterior fontanel||-|
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Can having a left foot that is missing the three middle toes and with two other underdeveloped toes be inherited? Can it be genetically transmitted? See answer