Other Names for this Disease
- Cerebral gigantism
- Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development
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Your QuestionI 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.
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Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).
Last updated: 5/27/2015
- Sotos syndrome. Genetics Home Reference. February, 2015; http://ghr.nlm.nih.gov/condition/sotos-syndrome.