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Peutz-Jeghers syndrome

Disease definition

A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.


Classification level: Disorder
  • Synonym(s):
    • Hamartomatous intestinal polyposis
    • PJS
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: Q85.8
  • ICD-11: LD2D.0
  • OMIM: 175200
  • UMLS: C0031269
  • MeSH: D010580
  • GARD: 7378
  • MedDRA: 10034764

Detailed information


Disease review articles

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.