Duane radial ray syndrome(redirected from bulbus retractus syndrome)
Duane radial ray syndromeAn 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.
DRRS is caused by mutations of SALL4, which encodes a zinc finger transcription factor thought to play a role in musculoskeletal embryogenesis.
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