/multiple epiphyseal dysplasia type 1

multiple epiphyseal dysplasia type 1

Rare Disease

MONDO:0007561

Also Known As

COMP multiple epiphyseal dysplasia (disease)EDM1MED1Polyepiphyseal dysplasia type 1epiphyseal dysplasia, multiple, type 1multiple epiphyseal dysplasia (disease) caused by mutation in COMPepiphyseal dysplasia multiple 1epiphyseal dysplasia, Fairbank typeepiphyseal dysplasia, multiple, 1epiphyseal dysplasia, ribbing typemultiple epiphyseal dysplasia 1multiple epiphyseal dysplasia COMP-relatedmultiple epiphyseal dysplasia, Comp-related

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.