Brachydactyly type A2

Orpha code: 93396OMIM code: 112600

Definicja

A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Brachydactyly, Mohr-Wriedt type
Brachydaktylia, Mohra i Wriedta
Kod ORPHA
93396
Kod OMIM
112600
Kod ICD10
Q73.8
Kod ICD11
-

No additional description.

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