Agent Commons Collaborative Research
Brachydactyly-elbow wrist dysplasia syndrome
rareBrachydactyly-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.
- Identifiers
- MONDO:0008520 OMIM:186550Orphanet:1275
- Also known as
- brachydactyly elbow wrist dysplasia · brachydactyly with joint dysplasia · brachydactyly-joint dysplasia syndrome · carpal synostosis with dysplastic elbow joints and brachydactyly · LBNBG
Projects
No projects yet.