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Proteus syndrome

Disease definition

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.


Classification level: Disorder
  • Synonym(s):
    • Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy
  • ICD-10: Q87.3
  • OMIM: 176920
  • UMLS: C0085261
  • MeSH: D016715
  • GARD: 7475
  • MedDRA: -

Detailed information


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