Gardner Syndrome — ORE Part 1 MCQ
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Correct answer: D — Gardner syndrome
Explanation lettering: D = shown as A · E = shown as B · A = shown as D · B = shown as E
The answer is **Gardner syndrome (A)**. The clinical presentation—supernumerary teeth, intestinal polyposis, and sebaceous cysts—represents the classic diagnostic triad of Gardner syndrome. This is a variant of familial adenomatous polyposis (FAP) inherited in an autosomal dominant pattern and caused by mutations in the APC gene. Dental anomalies (supernumerary teeth, odontomas, osteomas) often appear in childhood, preceding colonic polyps by approximately 10 years, making early oral recognition critical for diagnosis and cancer prevention. Gorlin-Goltz syndrome (B), whilst presenting with multiple jaw cysts, is characterised by odontogenic keratocysts rather than supernumerary teeth and lacks both intestinal polyposis and sebaceous cysts. Peutz-Jeghers (C) has intestinal polyps but presents with characteristic pigmented macules and hamartomas, not supernumerary teeth or sebaceous cysts. Treacher Collins (D) and Down syndrome (E) are not associated with this phenotype.
Reference: Oral and maxillofacial considerations in Gardner's syndrome: a report of two cases. PMC4778692 (2014). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4778692/