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Синдром брахідактилії - дисплазії ліктьового суглоба

ORPHA:1275· ICD-10 Q73.8· Brachydactyly-elbow wrist dysplasia syndrome

Визначення(English summary)

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

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