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

Abstract

Macrodactyly is a congenital malformation characterized by overgrowth of soft tissues and bones in limbs. Pathological adipose infiltration is the most common manifestation, often involving the median nerve and digital nerves, and may progress aggressively. At the same time, some patients may show abnormal bone hyperplasia, causing the fingers to deviate and limiting joint mobility. Although surgery can reduce the symptoms of the affected limb to a certain extent, the recurrence rate is high, often leading to the serious consequence of amputation. It has been confirmed that the occurrence of macrodactyly is closely related to gain-of-function mutation of PIK3CA and belongs to the "PIK3CA-related overgrowth spectrum". Targeted regulation of the PI3K/AKT/mTOR pathway is becoming an important treatment method. To enhance the understanding of this disease, promote the establishment of a precise diagnosis and treatment system for macrodactyly, and improve the prognosis of the disease, the Hand Plastic Surgery Committee of the Aesthetic and Plastic Surgeon Branch of Chinese Medical Doctor Association, Clinical Genetics Group of Medical Geneticist Branch of Chinese Medical Doctor Association, the Pediatric Plastic Surgery Group of Plastic Surgery Branch of Chinese Medical Association, and the Assistive Devices Application Committee of Chinese Rehabilitation Medicine Association have convened experts from well-known medical colleges and their affiliated hospitals across China to formulate this consensus, with an aim to promote in-depth research, precise diagnosis and treatment, and rehabilitation of macrodactyly.