Diseases & Conditions


Rett Syndrome

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.

    Organizations related to Rett Syndrome
    • Glaze, Daniel, M.D.
      Department of Pediatrics
      Houston TX 77030
      Phone #: --
      800 #: --
      e-mail: N/A
      Home page: N/A
    • International Rett Syndrome Foundation
      9121 Piscataway Road
      Clinton MD 20735
      Phone #: 301-856-3334
      800 #: 800-818-7388
      e-mail: [email protected]
      Home page: http://www.rettsyndrome.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      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: [email protected]
      Home page: http://www.madisonsfoundation.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: [email protected]
      Home page: http://www.marchofdimes.com
    • Naidu, Sakkubai, M.D.
      John F. Kennedy Institute for Handicapped Children
      Baltimore MD 21205
      Phone #: --
      800 #: --
      e-mail: N/A
      Home page: N/A
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: [email protected]
      Home page: http://www.ninds.nih.gov/
    • New Horizons Un-Limited, Inc.
      811 East Wisconsin Ave
      Milwaukee WI 53202
      Phone #: 414-299-0124
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.new-horizons.org
    • Sj?ldne Diagnoser / Rare Disorders Denmark
      Frederiksholms Kanal 2, 3rd Floor
      Copenhagen K None 1220
      Phone #: 45 -33 -14 00 10
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.raredisorders.dk
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: [email protected]
      Home page: http://www.thearc.org/
    • 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: [email protected]
      Home page: http://www.wemove.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