Overview
Peutz-Jeghers syndrome (PJS), also known as Peutz-Jeghers polyposis, is a rare inherited disorder characterized by the development of distinctive hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmented macules (dark freckling), particularly around the lips, buccal mucosa, fingers, and toes. The condition is caused by pathogenic variants in the STK11 (also called LKB1) gene located on chromosome 19p13.3, which encodes a serine/threonine kinase functioning as a tumor suppressor. Approximately half of affected individuals inherit the condition from a parent, while the remainder have de novo mutations. The gastrointestinal polyps most commonly occur in the small intestine but can also develop in the stomach and colon. These polyps can lead to significant complications including recurrent abdominal pain, intestinal obstruction, intussusception (telescoping of the bowel), and gastrointestinal bleeding, which may result in anemia. The mucocutaneous pigmented macules typically appear in early childhood and may fade after puberty, though buccal pigmentation often persists. Individuals with PJS have a substantially increased lifetime risk of developing various cancers, including colorectal, gastric, small intestinal, pancreatic, breast, ovarian, cervical, uterine, testicular (particularly Sertoli cell tumors), and lung cancers. The cumulative lifetime cancer risk has been estimated to be as high as 85-93%. There is currently no cure for Peutz-Jeghers syndrome. Management focuses on regular surveillance and early detection of polyps and cancers through comprehensive screening programs. This includes periodic upper and lower gastrointestinal endoscopy, capsule endoscopy or MR enterography for small bowel evaluation, and organ-specific cancer screening (mammography, pancreatic imaging, gynecological examinations, and testicular examinations). Polyps that are large or symptomatic are removed endoscopically or surgically to prevent complications such as obstruction and intussusception. Genetic counseling is recommended for affected individuals and their families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
2 eventsAir Force Military Medical University, China — NA
Johns Hopkins University — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Peutz-Jeghers syndrome.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Peutz-Jeghers syndrome.
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Common questions about Peutz-Jeghers syndrome
What is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome (PJS), also known as Peutz-Jeghers polyposis, is a rare inherited disorder characterized by the development of distinctive hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmented macules (dark freckling), particularly around the lips, buccal mucosa, fingers, and toes. The condition is caused by pathogenic variants in the STK11 (also called LKB1) gene located on chromosome 19p13.3, which encodes a serine/threonine kinase functioning as a tumor suppressor. Approximately half of affected individuals inherit the condition from a parent, while the remai
How is Peutz-Jeghers syndrome inherited?
Peutz-Jeghers syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Peutz-Jeghers syndrome typically begin?
Typical onset of Peutz-Jeghers syndrome is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Peutz-Jeghers syndrome?
Yes — 2 recruiting clinical trials are currently listed for Peutz-Jeghers syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Peutz-Jeghers syndrome?
24 specialists and care centers treating Peutz-Jeghers syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.