$Unique_ID{BRK03762} $Pretitle{} $Title{Gardner's Syndrome} $Subject{Gardner's Syndrome Intestinal Polyposis III Polyposis-Osteomatosis-Epidermoid Cyst Syndrome Bone Tumor-Epidermoid Cyst-Polyposis} $Volume{} $Log{} Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 152: Gardner's Syndrome ** IMPORTANT ** It is possible that the main title of the article (Gardner's Syndrome) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by this article. Synonyms Intestinal Polyposis III Polyposis-Osteomatosis-Epidermoid Cyst Syndrome Bone Tumor-Epidermoid Cyst-Polyposis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Gardner Syndrome is a hereditary condition characterized by colonic polyposis (multiple, benign growths, or polyps, on the mucosal lining of the colon), bony tumors of the skull, fatty cysts in the skin, and often, extra teeth. Patients with Gardner Syndrome have a high probability of developing colonic cancer during their middle years. Symptoms Gardner Syndrome appears during late childhood or after puberty. Numerous polyps develop on the mucosal lining of the large intestine (colon). These are commonly accompanied by rectal bleeding, and sometimes by diarrhea or constipation, recurrent abdominal pain, weight loss, and occasionally the prolapse of a polyp through the anus. Persistent rectal bleeding can result in secondary anemia. Fibrous, fatty tumors and cysts develop in the skin, and bony tumors develop in the skull and mandible (jaw bone). Soft tissue tumors also develop in the mesentery, a membrane that connects the intraabdominal organs. Patients often have supernumerary teeth, usually impacted. Occasionally, tumors develop in other sites. Untreated patients have a very high probability of developing intestinal malignancies by their early forties. Causes Gardner Syndrome is inherited through an autosomal dominant mechanism. Evidence has been found that the gene for transmission of Gardner Syndrome is located on chromosome 5. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Related Disorders Gardner Syndrome is related to several other syndromes in which familial hereditary polyposis of the colon plays a part. Familial adenomatous colon polyposis consists of polyposis unassociated with other abnormalities, but with a very high incidence of colonic cancer if untreated. In Peutz-Jeghers syndrome, numerous polyps in the stomach and small and large intestines are associated with discoloration of the skin and mucous surfaces. The Canada Cronkhite syndrome combines familial polyposis with abnormalities of the structures derived from the embryonic ectodermal layer. In Turcot syndrome, familial polyposis occurs with tumors in the central nervous system. For more information on the above disorders, choose "Adenomatous Colon," "Peutz," and "Canada-Cronkhite" as your search terms in the Rare Disease Database. Therapies: Standard In Gardner Syndrome the aim of therapy is to prevent cancer. Surgical removal of the rectum and colon accomplishes this definitively. Removal of only the colon, with anastomosis of the end of the small intestine and the rectum is a less drastic operation, and is favored for that reason. Polyps that appear after surgery should be removed. If they reappear in great numbers, remaining parts of the rectum have to be resected. Members of patients' families should be screened for the disorder, as they have a high probability of developing it. Therapies: Investigational This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Gardner Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 498-2162 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 6th ed.: Charles R. Scriver, et al.; eds., McGraw Hill, 1989. P. 362. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 817. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 767-71, 2337.