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.
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.
WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1660 L Street, NW, Suite 301
Washington, DC 20036
International Rett Syndrome Foundation
9121 Piscataway Road, Suite 2-B
Clinton, MD 20735
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Child Neurology Foundation
2000 West 98th Street
Bloomington, MN 55431
Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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 firstname.lastname@example.org
Last Updated: 8/17/2007
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