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Peutz-Jeghers syndrome

MeSH: D010580ORPHA: 2869

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis)

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Peutz-Jeghers syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the ureterAbnormality of the noseMultiple lentiginesAnemiaVomitingAbdominal painRectal prolapseAbnormality of the respiratory systemGastrointestinal hemorrhageNeoplasmGastrointestinal carcinomaBreast carcinomaIntestinal obstructionGastrointestinal infarctionsAbnormality of the gallbladderMultiple renal cystsRenal cell carcinomaPancreatic adenocarcinomaEnlarged polycystic ovariesAbnormality of the gastrointestinal tractStomach cancerNeoplasm of the noseMaculeCervix cancerNeoplasm of the colonNeoplasm of the lungBiliary tract neoplasmNasal polyposisMelanonychiaAbnormal pigmentation of the oral mucosaNeoplasm of the rectumEsophageal neoplasmNeoplasm of the small intestine

Classification & Codes

MeSH Code

D010580

Orphanet Code

ORPHA:2869
Peutz-Jeghers syndrome
MeSHD010580
OrphanetORPHA:2869
Treatments0 drug(s)
Symptoms on record33 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO