National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Rett Syndrome is not the name you expected.
Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females. Only in rare cases are males affected. Infants with Rett syndrome generally develop normally for about 7 to 18 months after birth. At this point, they lose previously acquired skills (developmental regression) such as purposeful hand movements and the ability to communicate. Additional abnormalities occur including impaired control of voluntary movements (ataxia) and the development of distinctive, uncontrolled hand movements such as hand clapping or rubbing. Some children also have slowing of head growth (acquired microcephaly), Affected children often develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, and seizures. Most Rett syndrome cases are caused by identifiable mutations of the MECP2 gene on the X chromosome and can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of the MECP2 mutation and the process of random X-inactivation (see Causes section below). Therefore, two girls of the same age with the same mutation can appear significantly different.
Rett syndrome was first described in the medical literature by an Austrian physician named Andreas Rett in 1960s. Many researchers now consider Rett syndrome as part of a spectrum of disease relating to mutations of the MECP2 gene. This spectrum, sometimes referred to as MECP2-related disorders, includes classic Rett syndrome, variant Rett syndrome, MECP2-related severe neonatal encephalopathy, and PPM-X syndrome. Another disorder, MECP2 duplication syndrome, has recently been described in the medical literature. This disorder is caused by duplicated material involving the MECP2 gene on the X chromosome.
Child Neurology Foundation
- 201 Chicago Ave, #200
- Minneapolis, MN 55415
- Tel: (952)641-6100
- Fax: (952)881-6276
- Tel: (877)263-5430
- Email: firstname.lastname@example.org
- Website: http://www.childneurologyfoundation.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
International Rett Syndrome Foundation
- 4600 Devitt Dr.
- Cincinnati, OH 45246
- Tel: (800)818-7388
- Email: email@example.com
- Website: http://www.rettsyndrome.org
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or firstname.lastname@example.org
- Website: http://www.marchofdimes.org and nacersano.org
Medical Home Portal
- Dept. of Pediatrics
- University of Utah
- Salt Lake City, UT 84158
- Tel: (801)587-9978
- Fax: (801)581-3899
- Email: email@example.com
- Website: http://www.medicalhomeportal.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
New Horizons Un-Limited, Inc.
- 811 East Wisconsin Ave
- P.O. Box 510034
- Milwaukee, WI 53203
- Tel: (414)299-0124
- Fax: (414)347-1977
- Email: firstname.lastname@example.org
- Website: http://www.new-horizons.org
Rett Syndrome Research Trust
- 67 Under Cliff Road
- Trumbull, CT 06611
- Tel: 203.445.0041
- Email: email@example.com
- Website: http://www.rsrt.org/
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.org
- Website: http://www.thearc.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 7/20/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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