[Expert consensus on the clinical diagnosis and treatment of Split-hand/foot malformations (2025 Edition)].

Abstract

Split-hand/foot malformation (SHFM), also known as ectrodactyly (ED), is a group of congenital limb malformations characterized by partial or complete aplasia of the central rays of the hand and/or foot, with variable fusion of the remaining digits. These conditions can severely impact the functions of the limbs, with an incidence ranging from 1/90 000 to 1/8 500, and account for 8% to 17% of all limb malformations. The typical clinical manifestation include median clefts of the hands/feet, syndactyly, and hypoplasia or aplasia of phalanges and metacarpal/metatarsal bones. SHFM are genetically heterogeneous and mainly inherited as an autosomal dominant trait with incomplete penetrance. With the development of genetic technology, early diagnosis of SHFM can be achieved, which may provide crucial information for clinical management. Clinically, plastic and hand-foot surgeons have proposed integrated solutions for aesthetic repair and and functional reconstructions. To standardize the diagnosis and management of SHFM, the Obstetrics and Gynecology Ultrasound Group of Ultrasound Branch of Chinese Medical Association, Clinical Genetics Group of Medical Geneticist Branch of Chinese Medical Doctor Association, and Group of Genetic Disease Prevention and Control, Birth Defect Prevention and Control Committee, Chinese Society of Preventive Medicine has formulated a multidisciplinary expert consensus through discussions by specialists with backgrounds from genetics, plastic surgery, and hand-foot surgery, with an aim to guide precise clinical decision-making, genetic counseling, and personalized interventions.