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