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Genetic and Rare Diseases Information Center (GARD)

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Sotos syndrome

Other Names for this Disease
  • Cerebral gigantism
  • Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
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Your Question

I am a therapist in need of additional information regarding Sotos syndrome.  Are there any support groups with local state chapters?  I have a client that has been diagnosed with Sotos syndrome and I would like to refer the parents to a support group.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Sotos syndrome?

Sotos syndrome is a condition characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Affected individuals have facial features, most prominant in childhood, that include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. People with Sotos syndrome often have intellectual impairment, and most also have behavioral problems. Problems with speech and language are also common. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Sotos syndrome is caused by mutations in the NSD1 gene. About 95% of cases represent new mutations and occur in families with no history of the condition. In a small number of families, the condition appears to be inherited in an autosomal dominant pattern.[1]
Last updated: 5/27/2011

Are there any support organizations for individuals with Sotos syndrome?

The following organizations provide support for individuals with conditions such as Sotos syndrome.  

Sotos Syndrome Support Association
P.O. Box 4626
Wheaton, IL   60189
Toll -free: 1-888-246-7772
Web site:

Sotos Syndrome Support Association of Canada
1944 Dumfries
Quebec Intl H3P 2R9
Web site

Child Growth Foundation
2 Mayfield Avenue
London None W4 1PW
Telephone #: +44- 20-8 995 0257
E-mail: or
Web site:

The Arc of the United States (with local state chapters)
1660 L Street, NW, Suite 301
Washington, DC 20036
Toll-free: 1-800-433-5255
Telephone: 202-534-3700
Fax: 202-534-3731
Web site:

Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Telephone: 310-264-0826
Web site:

Last updated: 3/29/2013