Peutz-Jeghers syndrome
Peutz-Jeghers syndrome
Definition
An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.
Also known as hamartomatous intestinal polyposis, Jeghers-Peutz syndrome, Peutz Jeghers Syndrome, Peutz-Jeghers syndrome, Peutz's syndrome, PJS, polyps and spots syndrome, STK11-related Peutz-Jeghers syndrome — per MONDO