Sotos Syndrome

Important
It is possible that the main title of the report Sotos Syndromeis not the name you expected.

Synonyms

Cerebral Gigantism

Disorder Subdivisions

None

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.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

Sotos Syndrome Support Association
P.O. Box 4626
Wheaton
IL
60189-4626
USA
800: (888)246-7772
sssa@well.com
http://www.well.com/user/sssa/

Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset
Intl
DT2 9FA
United Kingdom
Tel: 01308 898445
Fax: 01308 898445
http://www.restrictedgrowth.co.uk

Sotos, Juan, M.D.
Nationwide Children’s Hospital
700 Children's Drive
Columbus
OH
43205
Tel: (614)722-5125Sotos Syndrome Support Group of Great Britain
c/o Child Growth Foundation
4 Mayfield Avenue
Chiswick
London
W4 1PW
United KingdomSotos Syndrome Support Association of Canada/Association Canadienne d'entraide du Syndrome de Sotos
1944 Dumfries
Montreal, Quebec
Intl
H3P 2R9
Canada
Fax: 5147311255
info@sssac.com
http://www.sssac.com

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K
1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
mail@sjaeldnediagnoser
http://www.raredisorders.dk

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

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 orphan@rarediseases.org

Last Updated: 5/1/2009
Copyright 1986, 1990, 1995, 1997, 1998, 2005, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 01, 2009

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