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Sotos syndrome

Disease definition

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

ORPHA:821

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

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