• A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2021
• A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.
  NCI Thesaurus
  U.S. National Cancer Institute, 2021
• Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.
  OrphaNet
  INSERM, 2021
• In 1951, Gardner described the occurrence of familial adenomatous polyposis (FAP) with the extracolonic manifestations of intestinal polyposis, desmoids, osteomas, and epidermoid cysts (ie, Gardner syndrome). FAP, formerly known as familial polyposis coli (FPC) and hereditary adenomatosis of the colon and rectum, is an autosomal dominant...
  Medscape
  WebMD, 2019
• 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...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences