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 characterized by a near normal pelvis with some scalloping of the acetabular margin.
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
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.

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