Multiple epiphyseal dysplasia, with miniepiphyses

Orpha code: 166032OMIM code: 609325

Definicja

Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.

Disease data
Klasyfikacja

Disease

Kod ORPHA
166032
Kod OMIM
609325
Kod ICD10
Q77.3
Kod ICD11
LD24.61

No additional description.

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