Rett Syndrome

Important
It is possible that the main title of the report Rett Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Autism, Ataxia, and Loss of Purposeful Hand Use
RS
RTS

Disorder Subdivisions

None

General Discussion

Rett Syndrome is a rare neurodevelopmental disorder that appears to occur almost exclusively in females but can occur rarely in males. Infants and children with the disorder typically develop normally until about 7 to 18 months of age, when they may begin to lose previously acquired skills (developmental regression), such as purposeful hand movements and the ability to communicate. Additional abnormalities typically include slowing of head growth (acquired microcephaly); development of distinctive, uncontrolled (stereotypic) hand movements, such as hand clapping, rubbing, or "wringing"; and impaired control of voluntary movements required for coordination of walking (gait apraxia). Affected children also typically develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, and episodes of uncontrolled electrical activity in the brain (seizures).

Rett Syndrome results from a mutation (change) on the X chromosome that is transmitted as an X-linked trait. However, most cases are thought to represent new mutations that appear to occur spontaneously (sporadically) for unknown reasons. In some affected females, the disorder may result from mutations of a gene known as MECP2 that is located on the long arm (q) of chromosome X (Xq28). The MECP2 gene is thought to play an essential role in brain development.
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Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
USA
Tel: 2128758312
Fax: 2128758389
Email: wemove@wemove.org
Internet: http://www.wemove.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

International Rett Syndrome Association
9121 Piscataway Road
Suite 2B
Clinton, MD 20735
USA
Tel: 3018563334
Fax: 3018563336
Tel: 8008187388
Email: irsa@rettsyndrome.org
Internet: http://www.rettsyndrome.org

Naidu, Sakkubai, M.D.
John F. Kennedy Institute for Handicapped Children
707 North Broadway
Baltimore, MD 21205

Glaze, Daniel, M.D.
Department of Pediatrics
Rett Syndrome Center
Baylor College of Medicine
Houston, TX 77030

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Rett Syndrome Research Foundation (RSRF)
4600 Devitt Dr
Cincinnati, OH 45246
USA
Tel: 5138743020
Fax: 5138742520
Email: mgriffin@rsrf.org
Internet: http://www.rsrf.org

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee, WI 53202
USA
Tel: 4142990124
Fax: 4143471977
Email: horizons@new-horizons.org
Internet: http://www.new-horizons.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 5/1/2006
Copyright 1986, 1987, 1994, 1995, 1998, 1999, 2000, 2001, 2002, 2004 National Organization for Rare Disorders, Inc.

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