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Синдром антекубітального птеригіуму

ORPHA:2987· ICD-10 Q87.2· Antecubital pterygium syndrome

Визначення(English summary)

A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.

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