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