brachydactyly type A1
Also found in: Dictionary, Thesaurus.
brachydactyly type A1An autosomal dominant OMIM 112500 condition characterised by brachydactyly of the middle phalanges, including short or absent phalanges, short metacarpal bones, hypoplastic or absent ulna and accessory ossification centres.
Mutations in IHH (located on chromosome 2q35) and BDA1B (located on 5p13.3-p13.2).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.