Leri Weill dyschondrosteosis (LWD) 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 long bones in the 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, bowing of a bone in the leg called tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance, which is similar to the autosomal dominant inheritance.
LWD is part of a group of diseases caused by deficiency of the SHOX gene, which includes a form or SHOX related short stature without additional problems.
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