multiple epiphyseal dysplasia 1

(redirected from epiphyseal dysplasia, Fairbank type)

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.