Fact-sheet: Gardner syndrome


Updated on 09/27/2024 at 12:40 PM

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Definition

Genetic disease related to mutation of the adenomatous polyposis coli (APC) tumor suppressor gene on chromosome 5q, autosomal dominant in 80% of cases and due to de-novo mutation in 20%.

This syndrome is a variant of Familial adenomatous polyposis (FAP).

It is characterized by:

  • colorectal polyposis,
  • osteomas of the mandible, skull, and long bones,
  • mesenteric desmoid tumors or soft tissue desmoid tumors
  • highly polymorphic dento-maxillary lesions: odontomas, supernumerary teeth, and impacted teeth
  • epidermoid cysts

Clinical features

Prevalence: between 1/8300 and 1/16000.

Colorectal polyposis: Colonic polyps usually develop during the second decade of life.

Skeletal involvement:

  • >90% of patients have skeletal abnormalities, the most common of which are osteomas.
  • Osteomas can involve the entire skeleton but predominate in the skull, paranasal sinuses, and mandible.
  • Mandibular lesions predominate at the mandibular angle and are often associated with facial deformity. Most patients have between 3 and 6 bone lesions.

Dental abnormalities: odontomas, supernumerary teeth, and impacted teeth.

Cutaneous epidermoid cysts are common.

Mesenteric or extra-abdominal desmoid tumors: affect approximately 10% of patients.

Management

High rate of malignant transformation of intestinal polyps into adenocarcinoma: By age 30, 50% of patients will have developed colorectal carcinoma. This frequency approaches 100% in older patients --> Prophylactic colectomy is usually recommended.

Removal of mandibular osteomas and epidermoid cysts is possible for cosmetic reasons.