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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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.
EDM1: A novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. Chin Med J 2013;126:1103-7.
Mustafa et al., "Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia, " Human Mutation, vol.
Chapman, "Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations, " Human Mutation, vol.
Although multiple epiphyseal dysplasia was initially considered in the differential diagnosis, it was quickly ruled out because the involvement of the vertebral column was much more consistent with SED.
Hecht, "Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments," American Journal of Medical Genetics--Seminars in Medical Genetics, vol.
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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