Brachydactyly type A2

Orpha code: 93396OMIM code: 112600

Definition

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
Classification

Malformation syndrome

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

No additional description.

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