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Синдром Елерса-Данлоса/недосконалого остеогенезу

ORPHA:230857· ICD-10 Q79.6· Ehlers-Danlos/osteogenesis imperfecta syndrome

Визначення(English summary)

A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal