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Sotos Syndrome.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Dec 17 [updated 2015 Nov 19].

Author information

Consultant and Honorary Reader in Clinical Genetics, St George's University of London, St George's University Hospital NHS Foundation Trust, London, United Kingdom
Consultant and Honorary Senior Lecturer in Clinical Genetics, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, United Kingdom
Professor and Honorary Consultant in Medical Genetics, Cancer Genetics Section, Institute of Cancer Research, Sutton, Surrey, United Kingdom



Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild to severe intellectual impairment); and overgrowth (height and/or head circumference ≥2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems, advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity / pes planus, maternal preeclampsia, neonatal jaundice, neonatal hypotonia, renal anomalies, scoliosis, and seizures.


The diagnosis of Sotos syndrome is established in a proband by identification of a heterozygous NSD1 pathogenic variant on molecular genetic testing.


Treatment of manifestations: Referral to appropriate specialists for management of learning disability/speech delays, behavior problems, cardiac abnormalities, renal anomalies, scoliosis, seizures; intervention is not recommended if the brain 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 pathogenic variant. 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 pathogenic variant has been identified in an affected family member.

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