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"Resources" on this report.
Copyright 1986, 1987, 1994, 1995, 1998, 1999, 2000, 2001, 2002, 2004, 2007
Synonyms of Rett Syndrome
- Autism, Ataxia, and Loss of Purposeful Hand Use
- RS
- RTS
Disorder Subdivisions
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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Organizations related to Rett Syndrome
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org
- Child Neurology Foundation
2000 West 98th Street
Bloomington MN 55431
Phone #: 952-641-6100
800 #: 877-263-5430
e-mail: jstone@childneurologyfoundation.org
Home page: http://www.childneurologyfoundation.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Glaze, Daniel, M.D.
Department of Pediatrics
Rett Syndrome Center
Baylor College of Medicine
Houston TX 77030
Phone #: --
800 #: --
e-mail: N/A
Home page: N/A
- International Rett Syndrome Foundation
4600 Devitt Drive
Clinton MD 45246
Phone #: 301-856-3334
800 #: 800-818-7388
e-mail: irsa@rettsyndrome.org
Home page: http://www.rettsyndrome.org
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Naidu, Sakkubai, M.D.
John F. Kennedy Institute for Handicapped Children
707 North Broadway
Baltimore MD 21205
Phone #: --
800 #: --
e-mail: N/A
Home page: N/A
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: horizons@new-horizons.org
Home page: http://www.new-horizons.org
- Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: mail@sjaeldnediagnoser
Home page: http://www.raredisorders.dk
- WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York NY 10024
Phone #: 212-875-8312
800 #: N/A
e-mail: wemove@wemove.org
Home page: http://www.wemove.org
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