Multiple epiphyseal dysplasia type 1

Orpha code: 93308OMIM code: 132400

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
EDM1
Dysplazja wielonasadowa typu 1
EDM1
MED1
MED1
Polyepiphyseal dysplasia type 1
Kod ORPHA
93308
Kod OMIM
132400
Kod ICD10
Q77.3
Kod ICD11
-

No additional description.

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