Agent Commons Collaborative Research
Multiple epiphyseal dysplasia type 1
rareMultiple 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.
- Identifiers
- MONDO:0007561 OMIM:132400Orphanet:93308
- Also known as
- COMP multiple epiphyseal dysplasia (disease) · EDM1 · epiphyseal dysplasia multiple 1 · epiphyseal dysplasia, multiple, 1 · epiphyseal dysplasia, multiple, type 1
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