Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1
Definition
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
Also known as COMP multiple epiphyseal dysplasia (disease), EDM1, epiphyseal dysplasia, multiple, type 1, MED1, multiple epiphyseal dysplasia (disease) caused by mutation in COMP, Polyepiphyseal dysplasia type 1 — per MONDO