[Clinical practice guidelines for brachydactyly type A1].

Brachydactyly type A1 (BDA1) is the first autosomal dominant genetic disease recorded in the literature. The main characteristics of BDA1 include shortening of the middle phalanx and fusion of the middle and distal phalanges. So far more than 100 pedigrees have been reported around the world. This paper summarizes the clinical manifestation, pathogenesis, diagnostic criteria and treatment plan for BDA1, with an aim to improve its diagnosis and clinical management.