Brachydactyly type C

Orpha code: 93384OMIM code: 113100

Definicja

A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
93384
Kod OMIM
113100
Kod ICD10
Q73.8
Kod ICD11
-

No additional description.

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