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Ізольований гумерорадіальний синостоз

ORPHA:3265· ICD-10 Q74.0· Isolated humero-radial synostosis

Визначення(English summary)

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.

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