[Expert consensus on the clinical diagnosis and management of Arthrogryposis multiplex congenita (2025 Edition)]

Arthrogryposis multiplex congenita (AMC) is a clinical syndrome with complex etiology. It is a non-progressive syndrome characterized by joint deformity and stiffness, muscle atrophy, reduction of skin folds and subcutaneous tissue, and contracture of periarticular tissue, and can affect children in whom there are at least 2 or more joint contractures in multiple areas. AMC may be divided into amyoplasia, distal arthrogryposis, central nervous system and neuromuscular diseases which can be diagnosed by prenatal ultrasound and genetic testing, as well as by clinical evaluation, genetic examination, neuromuscular electrophysiological examination, imaging examination and special laboratory examination after birth. The goal of treatment is to improve the self-care ability of children, and the methods mainly include rehabilitation therapy, splint support and orthotic fixation, as well as orthopedic surgery. The Obstetrics and Gynecology Ultrasound Group of the Ultrasound Branch of Chinese Medical Association, Clinical Genetics Group of the Medical Genetics Branch of Chinese Medical Association, and the Genetic Disease Prevention and Control Group of Birth Defects Prevention and Control Professional Committee of Chinese Preventive Medicine Association have organized experts to develop this consensus through multiple rounds of discussions, with an aim to provide reference for clinicians to better understand and standardize the diagnosis and treatment of this disease, and promote the development of related industries.