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Sotos Syndrome.

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

Author information

1
Consultant and Honorary Reader in Clinical Genetics, St George's University of London, St George's University Hospital NHS Foundation Trust, London, United Kingdom
2
Consultant and Honorary Senior Lecturer in Clinical Genetics, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, United Kingdom
3
Professor and Honorary Consultant in Medical Genetics, Cancer Genetics Section, Institute of Cancer Research, Sutton, Surrey, United Kingdom

Excerpt

CLINICAL CHARACTERISTICS:

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.

DIAGNOSIS/TESTING:

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

MANAGEMENT:

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.

GENETIC COUNSELING:

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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