/brachydactyly type A5

brachydactyly type A5

Rare Disease

MONDO:0019678

Also Known As

absent middle phalanges of digits 2-5 with nail dysplasiabrachydactyly type A5 nail dysplasiabrachydactyly with absence of middle phalanges and hypoplastic nails

Definition

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.