Other Names for this Disease
- Duane anomaly
- Duane retraction syndrome
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Your QuestionIf a first child is affected by Duane syndrome, what is the likelihood that subsequent children will also be affected? Should genetic counseling be done prior to attempting a second pregnancy?
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Questions on this page
- What is Duane syndrome?
- What causes Duane syndrome?
- Is Duane syndrome inherited?
- If a first child has Duane syndrome, what is the likelihood that subsequent children will also be affected?
- Should genetic counseling be done prior to attempting a second pregnancy?
- How can I find a genetics professional in my area?
Duane-radial ray syndrome (DRRS), inherited in an autosomal dominant manner, has been shown to be caused by mutations in the SALL4 gene. However, no SALL4 gene mutations were found in 25 sporadic cases of isolated DS (occurring in one individual in a family with no additional abnormalities).
DS can also be found as part of another complex autosomal recessive disorder (that can include deafness, facial weakness, vascular malformations and leaning difficulties) due to mutations in the HOXA1 gene. In addition, chromosome studies of individuals with DS and other abnormalities have, in rare cases, shown abnormalities that suggest other locations for genes responsible for causing DS.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Isolated Duane retraction syndrome. Genetics Home Reference. March 2009; http://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome. Accessed 11/18/2011.
- Duane syndrome. NORD. February 2, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/224/viewAbstract. Accessed 3/21/2012.
- Learning About Duane Syndrome. National Human Genome Research Institute (NHGRI). September 2010; http://www.genome.gov/11508984. Accessed 11/18/2011.
- Verma A. Duane Syndrome. eMedicine. March 20, 2008; http://emedicine.medscape.com/article/1198559-overview. Accessed 3/12/2009.
- Andrews CV, Hunter DG, Engle EC. Duane Syndrome. GeneReviews. May 25, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=duane. Accessed 3/12/2009.