Gardner Syndrome Clinical Presentation

Updated: Apr 29, 2022
  • Author: Hemant Singhal, MD, MBBS, MBA, FRCS, FRCS(Edin), FRCSC; Chief Editor: John Geibel, MD, MSc, DSc, AGAF  more...
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As familial adenomatous polyposis (FAP) progresses in the colon, the patient may present with bleeding per rectum, diarrhea, exhaustion, and fatigue. These manifestations are secondary to malnutrition. Obstipation, emesis, peritonitis, and other signs of sepsis are usually secondary to obstruction.

The extracolonic manifestations produce numerous symptoms. [8] Desmoids can cause parietal lumps, obstruction, and bleeding. Dental abnormalities may develop and may result in jaw pain. [9, 10] Epidermoid cysts may develop, but they manifest as only cosmetic defects. Gastric polyps may manifest as epigastric pain or bleeding. Duodenal polyps may cause pain, bleeding, or jaundice, whereas ileal polyps may cause obstruction. Thyroid carcinoma may manifest as a neck mass (with or without pain), hoarseness of voice, and signs of hypothyroidism or hyperthyroidism.


Physical Examination

The physical examination may reveal positive findings from hemoccult testing. Findings can also include palpable rectal polyps or masses, desmoid tumors or osteomas, [9, 10] and thyroid masses. Distinctive oral mucosal findings may be noted. [11]