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Sotos syndrome

Synonym(s) Cerebral gigantism
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
or Unknown
or Autosomal recessive
Age of onset Neonatal
  • Q87.3
  • C0175695
  • D058495
  • 10064387


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.

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Detailed information

Summary information
Review article
Practical genetics
Article for general public
Clinical genetics review
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