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Duane-radial ray syndrome

Other Names for this Disease
  • Acrorenoocular syndrome
  • DR syndrome
  • DRRS
  • Duane anomaly with radial abnormalities and deafness
  • Okihiro syndrome
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Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations. Duane-radial ray syndrome is caused by mutations in the SALL4 gene.[1] It is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity.[1][2] Some cases result from new mutations in the SALL4 gene.[1]
Last updated: 12/14/2009


  1. Duane-radial ray syndrome. Genetics Home Reference (GHR). 2006; Accessed 12/13/2009.
  2. Verma A. Duane Syndrome. eMedicine. 2008; Accessed 12/13/2009.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Duane-radial ray syndrome. Click on the link to view a sample search on this topic.