Diseases

Sotos Syndrome

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

11 entry terms
  • Cerebral Gigantism
  • Sotos Sequence
  • Sotos' Syndrome
  • Cerebral Gigantisms
  • Gigantism, Cerebral
  • Gigantisms, Cerebral
  • Sequence, Sotos
  • Soto Syndrome
  • Soto's Syndrome
  • Syndrome, Sotos
  • Syndrome, Sotos'

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2011

MeSH Record

Previous Indexing

  • Acromegaly (1977-2010)
  • Gigantism (1977-2010)

MeSH Hierarchy

Tree Numbers

  1. C16w.131w.077w.889w
  2. C16w.131w.260w.905w
  3. C16w.320w.180w.905w

AMA Style

References

  1. National Library of Medicine. Sotos Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D058495. http://id.nlm.nih.gov/mesh/2026/D058495
  2. Sotos Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Sotos_syndrome
  3. Sotos Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1770836