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Gardner's syndrome

variant of familial adenomatous polyposis Pathology: - dental anomalies - jaw cysts - epidermoid cysts & sebaceous cysts, especially of the face & scalp - fibromas - lipomas - osteomas - adrenal adenoma - ovarian tumors - desmoid tumor - congenital hypertrophy of the retinal pigment epithelium (CHRPE) (90%) (see OMIM 175100) Genetics: same mutations as familial adenomatous polyposis

General

adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP)

Properties

ASSOCIATED-NEOPLASM[S]: colorectal adenomatous polyp :SITE gastrointestinal system adenocarcinoma of the colon hepatoblastoma exostosis fibroma osteosarcoma adrenal cortical carcinoma thyroid carcinoma DESMOID bile duct cancer epidermoid cyst

Database Correlations

OMIM 175100

References

  1. OMIM :accession 175100
  2. UpToDate 14.1 http://www.utdol.com