Leri Weill dyschondrosteosis
Other Names for this Disease
- Léri-Weill dyschondrosteosis
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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 the 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.Leri Weill dyschondrosteosis is a
Last updated: 3/30/2016
- Heath K. Léri-Weill dyschondrosteosis. Orphanet Web site. May 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240.
- Léri-Weill dyschondrosteosis. Genetics Home Reference (GHR). January 2012; https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis.
- Binder G, Rappold GA. SHOX Deficiency Disorders. GeneReviews. August 20, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1215/.
- Genetics Home Reference (GHR) contains information on Leri Weill dyschondrosteosis. This website is maintained by the National Library of Medicine.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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