Duane-radial ray syndrome
Other Names for this Disease
- Okihiro syndrome
- DR syndrome
- Duane anomaly with radial abnormalities and deafness
- Acrorenoocular syndrome
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.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.