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Genetic and Rare Diseases Information Center (GARD)

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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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Overview

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

References

  1. Duane-radial ray syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome. Accessed 12/13/2009.
  2. Verma A. Duane Syndrome. eMedicine. 2008; http://emedicine.medscape.com/article/1198559-overview. Accessed 12/13/2009.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Acrorenoocular syndrome
  • DR syndrome
  • DRRS
  • Duane anomaly with radial abnormalities and deafness
  • Okihiro syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.