🧬 Genetic Disorder

Gardner Syndrome

Also known as: Familial Colorectal Polyposis with Extracolonic Manifestations, APC-Associated Polyposis Conditions

Gardner syndrome is a rare genetic disorder characterized by the presence of multiple colorectal polyps (adenomas), various types of benign and malignant tumors, and certain skeletal abnormalities. It is considered a variant of familial adenomatous polyposis (FAP) and is caused by mutations in the APC gene. Individuals with Gardner syndrome have a significantly increased risk of developing colorectal cancer, as well as other cancers and noncancerous growths.

ICD-10: Q87.8 Orphanet: 68447 OMIM: 175300
👥 1 in 10,000 to 1 in 30,000 live births Prevalence
🔬 25 Active Trials

Imagine your body is like a garden, and sometimes little weeds (polyps) grow in your tummy. Gardner Syndrome is when you get lots of these weeds, and sometimes they can turn into bigger problems. Doctors need to check your tummy often and maybe take out the weeds so you stay healthy!

Signs & Symptoms

  • Multiple colorectal polyps (adenomas)
  • Colorectal cancer
  • Epidermoid cysts
  • Osteomas (benign bone tumors)
  • Desmoid tumors
  • Dental abnormalities (e.g., impacted teeth, supernumerary teeth)
  • Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
  • Fibromas
  • Lipomas

Treatment Options

SURGERY

Prophylactic colectomy

HIGHLY EFFECTIVE
SURGERY

Endoscopic polypectomy

MODERATELY EFFECTIVE
MEDICATION FDA Approved

NSAIDs (e.g., Sulindac)

MODERATELY EFFECTIVE
MEDICATION FDA Approved

COX-2 inhibitors (e.g., Celecoxib)

MODERATELY EFFECTIVE Approved 1998
SURGERY

Desmoid tumor resection

MODERATELY EFFECTIVE
MEDICATION FDA Approved

Chemotherapy (for desmoid tumors or colorectal cancer)

MODERATELY EFFECTIVE
THERAPY

Radiation therapy (for desmoid tumors)

MODERATELY EFFECTIVE
SUPPORTIVE

Regular screening and surveillance (colonoscopies, upper endoscopy)

HIGHLY EFFECTIVE

Diagnosis

  • Colonoscopy with biopsy
  • Genetic testing for APC gene mutations
  • Physical examination
  • Imaging studies (e.g., X-rays, CT scans, MRI)
  • Ophthalmological examination (for CHRPE)

History

Gardner syndrome was first described by Eldon J. Gardner in 1951, who noted the association of colonic polyps with osteomas and soft tissue tumors. It was later recognized as a variant of familial adenomatous polyposis (FAP) due to the shared underlying genetic cause (APC gene mutations).

Recent Breakthroughs

2022

Novel Therapies for Desmoid Tumors in Gardner Syndrome

Recent studies have shown promising results with novel therapies, including tyrosine kinase inhibitors and gamma-secretase inhibitors, for the treatment of desmoid tumors associated with Gardner syndrome. These therapies may offer alternatives to surgery and radiation therapy.

2023

Liquid Biopsy for Early Detection of Colorectal Cancer in FAP/Gardner Syndrome

Research is underway to develop liquid biopsy techniques for the early detection of colorectal cancer in individuals with FAP and Gardner syndrome. These non-invasive methods could improve screening and surveillance strategies.