Orphanet: Sotos syndrome

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Sotos syndrome

Disease definition

A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.


Classification level: Disorder
  • Synonym(s):
    • Cerebral gigantism
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.3
  • OMIM: 117550  617169
  • UMLS: C0175695
  • MeSH: D058495
  • GARD: 10091
  • MedDRA: 10064387

Detailed information

Article for general public


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