Gardner syndrome

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Disease Overview

Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications.[8115][8116][7935]


Synonyms

  • Gardner's syndrome
  • Polyposis coli and multiple hard and soft tissue tumors
  • Intestinal polyposis, osteomas, sebaceous cysts

For more information, visit GARD.

National Organization for Rare Disorders