Duane radial ray syndrome

(redirected from Congenital Abduction Deficiency)
Also found in: Acronyms.

Duane radial ray syndrome

An autosomal dominant condition (MIM:102490) characterised by limited external rotation of the eyes and retraction with inward rotation, and by radial-ray-type bone defects in the hands (e.g., malformed or absent thumbs, extra thumb or finger-like thumb) and forearms (e.g., absence of one or more forearm bones); it may be accompanied by renal defects.

Molecular pathology
DRRS is caused by mutations of SALL4, which encodes a zinc finger transcription factor thought to play a role in musculoskeletal embryogenesis.