multiple epiphyseal dysplasia


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multiple epiphyseal dysplasia 1

An autosomal dominant skeletal disorder (OMIM:132400) characterised by short stature and early-onset osteoarthrosis; pain in hips, knees or ankles in later childhood, due to developmental hip defects; height is slightly decreased; arm, leg, finger or toe lengths may be markedly decreased; movement may be restricted.
 
Molecular pathology
Defects in COMP, which encodes the cartilage oligomeric matrix protein, which is highly expressed in the territorial matrix of chondrocytes, causes multiple epiphyseal dysplasia 1.

multiple epiphyseal dysplasia

Fairbank disease Pediatrics A mild AD form of dwarfism Clinical Pain in hips, knees or ankles in later childhood, due to developmental hip defects; height is slightly ↓; arm, leg, finger or toe lengths may be markedly ↓; movement may be restricted. Cf Dwarfism.
References in periodicals archive ?
Multiple epiphyseal dysplasia is a rare cause of secondary OA and widespread pain.
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene.
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
EDM1: A novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia.
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Differential considerations for this condition include multiple exostosis, enchondromatosis, multiple epiphyseal dysplasia, Turner's syndrome without LWD, achondroplasia, chondroectodermal dysplasia, and hypoparathyroidism.

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