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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.

Surgery is still the main treatment for congenital polydactyly, and the aim of surgical reconstruction is to obtain a thumb with excellent function and appearance. A systematic assessment of polydactyly is required prior to surgery, including bone stress lines, joint deviation, joint activity and joint instability, size and development of finger and nail. Bone shape, joint incongruency, and abnormal tendon insertions must be corrected completely, in order to obtain good function and to avoide secondary surgery. Bilhault-Cloquet procedure can reconstruct the size of the finger and nails. Fine manipulation can improve the postoperative nail deformity, so that the reconstructed nail reaches a satisfactory aesthetic score.