Brachydactyly type A5

MONDO:0019678

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.

Also known as: absent middle phalanges of digits 2-5 with nail dysplasia, brachydactyly type A5 nail dysplasia, brachydactyly with absence of middle phalanges and hypoplastic nails

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