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multiple epiphysial dysplasia


Definition: a disorder of epiphyses characterized by difficulty in walking, pain and stiffness of joints, stubby fingers, and often short stature; on radiographic examination, the epiphyses are irregular and mottled, the ossification centers are late in appearance and may be multiple, but the vertebrae are normal. There are at least three forms of autosomal dominant inheritance: EDM1 [MIM*132400] due to mutation in the cartilage oligomeric matrix protein gene (COMP) on chromosome 19p; EDM2 [MIM*600204], due to mutation in the type IX collagen gene (COL9A2) on 1p; and EDM3 [MIM*600969], which is linked to an unknown locus. There is also an autosomal recessive form [MIM*226900].

Synonym(s): dysplasia epiphysialis multiplex

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.