[Expert consensus on the clinical diagnosis and management of Congenital brachydactyly (2025 Edition)].

Abstract

Brachydactyly (BD) is a common congenital deformity of the hands and feet resulting from shortening, absence, or fusion of phalanges and metatarsals. Clinically, BD is categorized into isolated, complex and syndromic forms based on the presence of co-morbid congenital manifestations. The diagnosis of BD primarily depends on the examination of the appearance, along with the anteroposterior (AP) X-ray of hands and feet. Bell classified the isolated BD into five types based on the location and number of involved bones. Some BD can be further subdivided into several subtypes according to the severity of the patient's condition and the pathogenic genes. BD shows familial clustering and is mainly inherited in an autosomal dominant manner. The application of high-throughput sequencing has advanced the understanding of the pathogenetic mechanisms of BD. The treatment of BD primarily consists of surgical procedures and rehabilitation training, emphasizing the enhancement functionality and aesthetics of hand and foot. This consensus was initiated by the Hand and Foot Deformities Research Team at Chinese Academy of Medical Sciences Peking Union Medical College Hospital, and refined through multiple rounds of discussions among experts from multiple disciplines. The consensus is intended to facilitate standardized approaches to the diagnosis and treatment of BD, and improve the clinical diagnosis, etiological analysis, clinical intervention, and genetic counseling for BD patients and their families.