Gardner Syndrome — MFDS Part 1 MCQ

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ModerateOral PathologyGardner SyndromeMFDS Part 1

A 19-year-old patient is found to have numerous adenomatous colorectal polyps. Panoramic radiography demonstrates multiple jaw osteomas together with several impacted supernumerary teeth. Which diagnosis best describes this phenotype?

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Correct answer: C — Gardner syndrome

Gardner syndrome is the extracolonic phenotype of APC-associated familial adenomatous polyposis characterised by numerous colorectal adenomas together with features such as multiple craniofacial osteomas, impacted or supernumerary teeth, odontomas, epidermoid cysts and desmoid tumours. The combination of colorectal adenomatous polyposis and multiple jaw osteomas is particularly discriminating. Gorlin–Goltz syndrome is associated with multiple odontogenic keratocysts and basal cell carcinomas, not colorectal polyposis. Peutz–Jeghers syndrome causes hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Cowden syndrome commonly produces mucocutaneous lesions, macrocephaly and hamartomas. A colonic-only FAP phenotype does not account for the prominent osteomas and dental abnormalities.

Reference: Di Nardo D et al. Osteoma of the Jaw as First Clinical Sign of Gardner's Syndrome: The Experience of Two Italian Centers and Review. Journal of Clinical Medicine, 2023. https://pubmed.ncbi.nlm.nih.gov/36836031/