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Wednesday, Dec 03, 2008 | 11:56 AM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Gardner Syndrome
Monday, 02 February 2004
Last Updated Monday, 29 November 2004
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What
Familial Adenomatous Polyposis (FAP) is a rare genetic disease characterized by multiple intestinal polyps (small growths in the intestine), which have a very high frequency of progression to cancer. Gardner syndrome is a variant of FAP. However, individuals with Gardner syndrome also have osteomas (tumors of the bone) especially located in the jaw bone, skull, and long bones, as well as skin and soft tissue tumors. The major way Gardner syndrome varies from FAP is by the presence of bone and soft tissue tumors.Who
Gardner syndrome occurs in all ethnic groups and affects males and females equally. The incidence in the United States is 1 in 1 million individuals. Although polyps in the colon can start forming during puberty, the average age of diagnosis of Gardner Syndrome is 22 years.Signs and Symptoms
The first sign of Gardner syndrome is usually the presence of epidermal cysts located on the scalp, face, and arms and legs since these cysts usually appear first before the development of polyps in the intestinal tract. Cysts are small growths on the skin that may contain fluid or solid substances. Later symptoms are related to the presence of polyps in the intestinal tract, which typically begin forming in puberty. These symptoms include painless rectal bleeding, abdominal discomfort, or diarrhea. However, many people will not have any symptoms. Nearly all polyps undergo malignant transformation (becoming cancerous), and the progression to malignancy occurs between the ages of 30 and 50. People with Gardner Syndrome can develop other cancers in the bone and soft tissues. Other cancers associated with Gardner syndrome include CNS tumors (tumors of the brain and spinal cord), osteosarcoma (cancer of the bone), chondrosarcoma (cancer of cartilage), hepatoblastoma (cancer of the liver), thyroid carcinoma, and liposarcoma (cancer of fatty tissue).Possible Causes
Gardner syndrome is a genetic disorder that is caused by an abnormality in a gene called the APC, or the Adenomatous Polyposis Coli, gene. Abnormalities of the APC gene are associated with increased risk of developing FAP, a severe form colorectal cancer. Gardner Syndrome is inherited as an autosomal dominant disease. An individual must have two inactivated copies of the APC gene in order to have Gardner Syndrome. Most individuals (80%) inherit one abnormal APC gene and later acquire a genetic mutation inactivating the other gene at some point during their life. Therefore, inheriting one abnormal gene significantly increases the risk for developing a spontaneous mutation in the other copy of the APC gene. In fact, it increases the risk so much that basically 100% of individuals will acquire the second mutation, and most will acquire it early in life.Diagnosis
The family history is a very important part of the diagnosis of Gardner syndrome. To confirm the diagnosis of Gardner syndrome, a DNA test can be performed to look for abnormalities in the APC gene. Stool tests, colonoscopy, or sigmoidoscopy can be performed to identify any polyps in the intestinal tract. Imaging studies like X-rays and CT scans can be done to look for other bone or soft tissue tumors.Treatment
Currently, scientists are still trying to find a cure for Gardner syndrome. However, if the disease is identified early enough, the individual can be properly monitored. Stool tests, colonoscopy, or sigmoidoscopy should be performed every 1or 2 years from the age of 8. If more than 30 polyps are identified or if biopsy of a polyp shows malignancy, then removal of the colon is recommended. Doctors may want to remove part of the rectum since there is a 25-59% risk of developing rectal carcinoma. Imaging studies should be performed routinely to catch any bone or soft tissue tumors that can be removed. An ophthalmologic exam should be performed to look for abnormalities in the eye. 90% of Gardner Syndrome patients will have colored lesions in the eye called pigmented ocular fundus lesions. Individuals should also be screened for thyroid carcinoma, especially females. Since this is an inherited disease, all family members of an affected child should also be screened for the disease.Prognosis
The prognosis for Gardner syndrome depends on when the diagnosis is made. If diagnosed early enough and if proper surveillance and surgical procedures are performed, the development of a malignant cancer can be avoided.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
E-medicine
Good summary of the disease with lots of details.
MedicineNet.com
Good clear summary of the disease.