multiple epiphyseal dysplasia
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multiple epiphyseal dysplasia 1An 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.
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.
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multiple epiphyseal dysplasiaFairbank 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.