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Синдром множинної епіфізарної дисплазії - мініепіфізів

ORPHA:166032· ICD-10 Q77.3· Multiple epiphyseal dysplasia-miniepiphyses syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Вік початку
Childhood, Infancy