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Sotos Syndrome.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2004 Dec 17 [updated 2012 Mar 08].



Sotos syndrome is characterized by the cardinal features of typical facial appearance, overgrowth (height and/or head circumference ≥2 SD above the mean), and learning disability ranging from mild (children attend mainstream schools and are likely to be independent as adults) to severe (lifelong care and support will likely be required). Sotos syndrome is associated with the major features of behavioral problems, congenital cardiac anomalies, neonatal jaundice, renal anomalies, scoliosis, and seizures.


The diagnosis of Sotos syndrome is established by a combination of clinical findings and molecular genetic testing. NSD1 is the only gene in which mutations are known to cause Sotos syndrome. About 80%-90% of individuals with Sotos syndrome have a demonstrable NSD1 abnormality.


Treatment of manifestations: Referral to appropriate specialists for management of learning disability/speech delays, behavior problems, cardiac abnormalities, renal anomalies, scoliosis, seizures; no intervention if MRI shows ventricular dilatation without raised intracranial pressure. Surveillance: Regular review by a general pediatrician for younger children, individuals with many medical complications, and families requiring more support than average; less frequent review of older children/teenagers and those individuals without many medical complications. Other: Education of affected individuals and their families regarding natural history, treatment, mode of inheritance, genetic risks to other family members, and consumer-oriented resources; genetic counseling of young adults regarding risk to offspring.


Sotos syndrome is inherited in an autosomal dominant manner. More than 95% of individuals have a de novo mutation. If neither parent of a proband has Sotos syndrome, the risk to sibs of the proband is low (<1%). The risk to offspring of affected individuals is 50%. Prenatal testing is possible for pregnancies at risk if the NSD1 disease-causing mutation has been identified in an affected family member.

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