Léri-Weill dyschondrosteosis

Léri-Weill dyschondrosteosis (LWD), also known as Léri-Weill syndrome or dyschondrosteosis, is a skeletal dysplasia characterized by disproportionate short stature with mesomelic (middle segment) limb shortening and a characteristic wrist deformity known as Madelung deformity. The condition is caused by haploinsufficiency of the SHOX (Short Stature Homeobox) gene, located in the pseudoautosomal region 1 (PAR1) of the X and Y chromosomes. Deletions or mutations of the SHOX gene, or deletions of its downstream enhancer region, account for the majority of cases. LWD is inherited in a pseudoautosomal dominant pattern, meaning it can be transmitted from either parent regardless of sex, though females are typically more severely affected than males. The hallmark feature of LWD is Madelung deformity, which involves bowing of the radius, dorsal subluxation of the distal ulna, and a triangular configuration of the carpal bones at the wrist. This deformity usually becomes apparent during childhood or adolescence, particularly around puberty. Affected individuals typically have short stature, predominantly due to shortening of the forearms (mesomelia) and lower legs. The degree of short stature is variable, with adult height generally ranging from -2 to -3 standard deviations below the mean. Additional features may include limited range of motion at the wrist and elbow, and muscular hypertrophy of the calves. Some individuals may experience pain and functional limitation at the wrist. There is no cure for Léri-Weill dyschondrosteosis, but management is symptomatic and supportive. Growth hormone therapy has been used in some patients to improve final adult height, with variable results. Surgical intervention may be considered for symptomatic Madelung deformity, including procedures to correct wrist alignment and relieve pain. Orthopedic monitoring throughout childhood and adolescence is recommended to track skeletal development and intervene when necessary. Genetic counseling is important for affected families to understand recurrence risks and the variable expressivity of the condition.

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