x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Peutz-Jeghers syndrome

Disease definition

Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.

ORPHA:2869

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

Detailed information

Professionals

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.