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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Duane syndrome


Other Names for this Disease
  • DRS
  • Duane anomaly
  • Duane retraction syndrome
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Inheritance


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Is Duane syndrome inherited?

The majority of cases of Duane syndrome are sporadic (occurring in individuals with no history of the condition in the family). About 10% of affected individuals appear to have other affected family members. Both autosomal dominant (most commonly) and autosomal recessive forms of Duane syndrome have been documented. In some families with dominant Duane syndrome, it has appeared to "skip a generation" (showing reduced penetrance) and it has also been shown to range in severity within the same family (showing variable expressivity).[1] Most familial cases are not associated with other anomalies. Given the large percentage of sporadic cases, it seems likely that both genetic and environmental factors play a role in the development of Duane syndrome amongst affected individuals.[2][3] 
Last updated: 3/21/2012

References
  1. Duane syndrome. NORD. February 2, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/224/viewAbstract. Accessed 3/21/2012.
  2. Learning About Duane Syndrome. National Human Genome Research Institute (NHGRI). September 2010; http://www.genome.gov/11508984. Accessed 11/18/2011.
  3. Verma A. Duane Syndrome. eMedicine. March 20, 2008; http://emedicine.medscape.com/article/1198559-overview. Accessed 3/12/2009.