brachydactyly-elbow wrist dysplasia syndrome
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 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.
MONDO:0005497
bone development disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
LBNBG
related
Liebenberg syndrome
exact
brachydactyly elbow wrist dysplasia
related
brachydactyly with joint dysplasia
related
brachydactyly-joint dysplasia syndrome
exact
carpal synostosis with dysplastic elbow joints and brachydactyly
related