Gardner Syndrome

Gardner syndrome is a subtype of familial adenomatous polyposis (FAP) with additional features including osteomas, dental abnormalities, and soft tissue tumors. Without prophylactic colectomy, nearly all affected patients develop colorectal cancer.

Table of Contents

Quick Facts

  • Inheritance: Autosomal dominant
  • Gene: APC
  • Cancer risk: ~100% without colectomy

Features

  • Hundreds to thousands of colon polyps
  • Osteomas (bony growths, often skull and jaw)
  • Dental abnormalities
  • Soft tissue tumors (epidermoid cysts, desmoid tumors, fibromas)
  • Congenital hypertrophy of retinal pigment epithelium (CHRPE)

Management

  • Genetic testing for APC mutation
  • Frequent colonoscopy starting in adolescence
  • Prophylactic colectomy (typically 20s)
  • Upper GI surveillance
  • Surveillance for thyroid and other cancers
  • Genetic counseling for family

Related Conditions

Lynch Syndrome

Different inherited cancer syndrome

 Cowden Syndrome

Another inherited polyposis-cancer syndrome
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • NCCN Guidelines. Genetic/Familial High-Risk Assessment: Colorectal.