Rett syndrome

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Causes

By Mayo Clinic staff

Rett syndrome is a genetic disorder, but in only a few cases is it inherited. Instead, the genetic mutation that causes the disease occurs randomly and spontaneously.

Rett syndrome in boys
Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.

A very small number of boys have a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they're still at risk of a number of health and behavior problems.

Risk factors Symptoms
References
  1. Schultz RJ, et al. Rett syndrome. http://www.uptodate.com/index. Accessed Aug. 27, 2012.
  2. Smeets EE, et al. Rett syndrome. Molecular Syndromology. 2012;2:113.
  3. Rett syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/rett-syndrome. Accessed Aug. 27, 2012.
  4. Disorders usually first diagnosed in infancy, childhood or adolescence. In: Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR. 4th ed. Arlington, Va.: American Psychiatric Association; 2000. http://www.psychiatryonline.com. Accessed Aug. 28, 2012.
  5. Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Accessed Sept. 11, 2012.
  6. Neul JL, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology. 2010;68:944.
  7. Lotan M. Alternative therapeutic intervention for individuals with Rett syndrome. The Scientific World Journal. 2007;29:698.
  8. Percy AK. Rett syndrome: Exploring the autism link. Archives of Neurology. 2011;68:985.
DS00716 Oct. 4, 2012

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