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Turcot syndrome with polyposis

Synonym(s) -
Prevalence -
Inheritance Autosomal dominant
Age of onset All ages
  • D12.6
MeSH -
MedDRA -


Disease definition

Turcot syndrome with polyposis or Turcot syndrome type 2 (TS2) is a form of familial adematous polyposis (FAP; see this term), characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma; see this term). It is also associated with pigmented ocular fundus lesions (POFLs).

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Detailed information

Review article
Clinical practice guidelines
Clinical genetics review
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