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Duane-radial ray syndrome
Other Names for this Disease
- Acrorenoocular syndrome
- DR syndrome
- Duane anomaly with radial abnormalities and deafness
- Okihiro syndrome
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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. It is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. Some cases result from new mutations in the SALL4 gene.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
Last updated: 12/14/2009
- Duane-radial ray syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition=duaneradialraysyndrome. Accessed 12/13/2009.
- Verma A. Duane Syndrome. eMedicine. 2008; http://emedicine.medscape.com/article/1198559-overview. Accessed 12/13/2009.
- Genetics Home Reference (GHR) contains information on Duane-radial ray syndrome. This website is maintained by the National Library of Medicine.
- The Engle Laboratory provides information about Duane-radial ray syndrome and the SALL4 gene.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Duane-radial ray syndrome. Click on the link to go to OMIM and review these resources.
- 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.