Leri Weill dyschondrosteosis

Overview

Type of disease: Rare conditions

Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the bones in the forearms and lower legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, elbow abnormalities, scoliosis, high-arched palate, and exostoses. Intelligence is not affected by this condition. In around 70 percent of cases, Leri Weill dyschondrosteosis is caused by mutations in or near one copy of the SHOX gene in each cell. The cause of the disorder remains unknown in the remaining 30 percent of cases. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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