Disease Information for Gardner syndrome: Definition

  • A phenotypic variant of adenomatosis polyposis coli featuring multiple colonic polyposis with malignant tendency, subcutaneous fibromata, dermoid tumors and lipomata, exostoses and osteomas of the skull and facial bones, and epidermal inclusion cysts; autosomal dominant; onset about age 20 with mass effect or bloody diarrhea; clinical clue is particular black retinal spots-----------------------------------

    Gardner Syndrome; Bone Tumor-Epidermoid Cyst-Polyposis;

    FAPG; Familial Adenomatous Polyposis with Extraintestinal Manifestations; GRS; Intestinal Polyposis III; Oldfield Syndrome; Polyposis, Gardner Type; Polyposis-Osteomatosis-Epidermoid Cyst Syndrome; Gardner syndrome is a rare, inherited disorder characterized by multiple growths (polyps) in the colon (often 1,000 or more), extra teeth (supernumerary), bony tumors of the skull (osteomas), and fatty cysts and/or fibrous tumors in the skin (fibromas or epithelial cysts); Gardner syndrome is a variant of familial adenomatous polyposis, a rare group of disorders characterized by the growth of multiple polyps in the colon; Gardner syndrome is inherited as an autosomal dominant trait--------- [NORD 2005]-----------------------

    Gardner syndrome is characterized by the combination of polyps of the colon, extra bowel tumors (especially tumors termed osteomas), and a rather characteristic abnormality of the retina of the eye; Today Gardner syndrome is known not to be a separate disease but rather to be a variant of another disease; That disease is called familial adenomatous polyposis (and abbreviated FAP); It is caused by a mutation in a gene symbolized as APC, the same gene mutated in FAP; Familial adenomatous polyposis (FAP), the overall designation for this syndrome, is characterized by the formation of thousands of polyps in the colon and rectum with colorectal cancer the inevitable consequence; Polyps can also occur in the stomach, duodenum and the terminal ileum