Skip to Content

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

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide