Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead and pointed chin, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and down-slanting eyes. The disorder is often accompanied by mild mental retardation; delayed motor, cognitive, and social development; hypotonia (low muscle tone), and speech impairments. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically (meaning they are not known to be inherited), familial cases have also been reported.
There is no standard course of treatment for Sotos syndrome. Treatment is symptomatic.
Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities
of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life. Developmental delays
may improve in the school-age years, and adults with Sotos syndrome are likely to be within the normal range for intellect
and height. However, coordination problems may persist into adulthood.
The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved
in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding
how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome.
Sotos Syndrome Support Association P.O. Box 4626 Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 |
The Arc of the United States 1825 K Street, NW Suite 1200 Washington, DC 20006 Info@thearc.org http://www.thearc.org Tel: 202-534-3700 800-433-5255 Fax: 202-534-3731 |
March of Dimes 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-997-4488 888-MODIMES (663-4637) Fax: 914-428-8203 |
National Organization for Rare Disorders (NORD) 55 Kenosia Avenue Danbury, CT 06810 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
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Last updated October 4, 2011