Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Sotos Syndrome


Synonyms of Sotos Syndrome
  • Cerebral Gigantism

Disorder Subdivisions



    General Discussion
    Sotos syndrome is a variable genetic disorder characterized by excessive growth before and after birth. One of the major features of Sotos syndrome is a particular facial appearance that includes facial flushing, an abnormally prominent forehead (frontal bossing), down-slanting eyelid folds (palpebral fissures), prominent, narrow jaw, a long narrow face and a head shape that is similar to an inverted pear. Height and head circumference are measured to be greater than average for most affected children. Developmental delays are present in most children with Sotos syndrome and can include motor and language delays as well as mental retardation ranging from mild to severe. Other problems associated with Sotos syndrome include jaundice in newborns, curved spine (scoliosis), seizures, crossed eyes (strabismus), conductive hearing loss, congenital heart defects, kidney abnormalities and behavioral problems. Affected individuals also have a slightly increased risk to develop specific types of tumors. Sotos syndrome is caused by an abnormality (mutation) in the NSD1 gene.

    Organizations related to Sotos Syndrome
    • 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: 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 #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • Restricted Growth Association
      P.O. Box 4744
      Dorset Intl DT2 9FA
      Phone #: 013-08 -898445
      800 #: --
      e-mail: N/A
      Home page: http://www.restrictedgrowth.co.uk
    • 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: mail@sjaeldnediagnoser
      Home page: http://www.raredisorders.dk
    • Sotos Syndrome Support Association
      P.O. Box 4626
      Wheaton IL 60189-4626
      Phone #: N/A
      800 #: 888-246-7772
      e-mail: sssa@well.com
      Home page: http://www.well.com/user/sssa/
    • Sotos Syndrome Support Association of Canada/Association Canadienne d'entraide du Syndrome de Sotos
      1944 Dumfries
      Montreal, Quebec Intl H3P 2R9
      Phone #: --
      800 #: --
      e-mail: info@sssac.com
      Home page: http://www.sssac.com
    • Sotos Syndrome Support Group of Great Britain
      c/o Child Growth Foundation
      London None W4 1PW
      Phone #: --
      800 #: --
      e-mail: N/A
      Home page: N/A
    • Sotos, Juan, M.D.
      Nationwide Children?s Hospital
      Columbus OH 43205
      Phone #: 614-722-5125
      800 #: --
      e-mail: N/A
      Home page: N/A
    • 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: info@thearc.org
      Home page: http://www.thearc.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