Metachondromatosis
Medical condition / From Wikipedia, the free encyclopedia
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Metachondromatosis is an autosomal dominant, incompletely penetrant[2] genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests.[3] This syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[4] The disease is thought to affect exon 4 of the PTPN11 gene.[2] Metachondromatosis is believed to be caused by an 11 base pair deletion resulting in a frameshift and nonsense mutation. The disease was discovered and named in 1971 by Pierre Maroteaux, a French physician, when he observed two families with skeletal radiologic features with exostoses and Ollier disease.[5] The observation of one family with five affected people led to the identification of the disease as autosomal dominant.[5] There have been less than 40 cases of the disease reported to date.[6][7]
Metachondromatosis | |
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Other names | METCDS[1] |
Metachondromatosis has an autosomal dominant pattern of inheritance. |