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Multiple epiphyseal dysplasia type 1
Disease 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.
ORPHA:93308
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2017, pdf)
- Clinical genetics review
- English (2019)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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