Brachydactyly-elbow wrist dysplasia syndrome
MONDO:0008520Brachydactyly-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 impossibility 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.
Also known as: Liebenberg syndrome, brachydactyly-joint dysplasia syndrome, LBNBG, LIEBENBERG syndrome, brachydactyly elbow wrist dysplasia, brachydactyly with Joint dysplasia, brachydactyly with joint dysplasia, carpal synostosis with dysplastic elbow joints and brachydactyly
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