Gardner's syndrome
People with Gardner syndrome carry a very high lifetime risk of colorectal cancer and several other malignancies. It is considered a subtype of Familial Adenomatous Polyposis (FAP).
📖 About
- Markedly increased cancer risk, often at a young age.
- Characterised by colonic polyposis plus extracolonic features (bone, skin, dental, and soft tissue tumours).
🧬 Aetiology
- A form of Familial Adenomatous Polyposis (FAP).
- Caused by mutations in the APC gene on chromosome 5q22.
- Inheritance is autosomal dominant with high penetrance.
🩺 Clinical Features
- 🌿 Adenomatous polyposis of the colon (hundreds to thousands of polyps).
- 🦴 Benign osteomas of the skull, mandible, and facial bones.
- 🧴 Epidermoid cysts of the skin.
- 🦷 Dental abnormalities: odontomas, supernumerary and impacted teeth.
- 🧵 Desmoid tumours and other soft tissue growths.
- 👁 Hypertrophy of the retinal pigment epithelium (CHRPE).
🎗 Cancer Risks
- 💩 Colorectal cancer: almost inevitable if untreated → requires surveillance and colectomy.
- 🟢 Small bowel cancer (4–12%) → CT/MR enterography.
- 🟤 Pancreatic cancer (≈2%) → abdominal imaging.
- 🦋 Papillary thyroid cancer (≈2%) → thyroid examination ± ultrasound.
- 🧒 Hepatoblastoma (≈1.5%) in children → regular liver USS and AFP levels.
- 🧠 Brain/CNS tumours (<1%).
- 🍲 Gastric cancer (≈0.5%) → OGD every 1–3 years.
- Other rare associations: bile duct and adrenal tumours.
🧪 Investigations
- Genetic testing → confirm APC gene mutation.
- Screening tailored to risks (colonoscopy, OGD, thyroid exam, liver USS/AFP, CT/MRI as indicated).
💊 Management
- High-risk surveillance programmes for at-risk individuals.
- 💉 Prophylactic colectomy/proctocolectomy is curative for colorectal risk.
- Endoscopic polypectomy + long-term celecoxib therapy may delay surgery in selected cases.
- Multidisciplinary care including genetics, gastroenterology, surgery, dermatology, and oncology.
📚 References
- Cancer.net – Gardner syndrome
- Oxford Handbook of Clinical Specialties – Gastroenterology/Oncology sections.
- UK BSG guidelines on familial colorectal cancer syndromes.
🧾 Clinical Case – Gardner’s Syndrome
A 25-year-old man is referred after a routine colonoscopy finds hundreds of colonic polyps.
He also reports a history of multiple epidermoid cysts and dental abnormalities.
Examination reveals a firm, non-tender mass on the mandible, confirmed as an osteoma on X-ray.
Genetic testing identifies an APC gene mutation.
👉 Diagnosis: Gardner’s syndrome (a variant of familial adenomatous polyposis with extracolonic features).
👉 Management: prophylactic colectomy planning, dermatology follow-up, dental review, and genetic counselling for family members.
