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Gardener Syndrome



Gardner Syndrome is a rare, hereditary disorder involving the colon.  It is characterized by multiple growth (polyps) in the colon but affected patients also develop bone and soft tissue tumors.  Symptoms of Gardner Syndrome generally appear during the teen years.  They may include extra teeth (supernumerary), bony tumors of the skull (osteomas), and fatty cysts or fibrous tumors in the skin (fibromas or epithelial cysts).  Individuals affected with Gardner Syndrome may also experience painless rectal bleeding and abdominal cramping.  Complications include bowel obstruction and rectal prolapse and/or the growth of other tumors in the GI (gastrointestinal) tract.


Treatment of Gardner Syndrome involves close observation of the patient to monitor growths of the polyps and tumors.  A colonoscopy is repeatedly performed to remove the polyps after the onset of the disease.  Removal of the colon and rectum is often necessary once the disease has progressed to more advanced stages.


Gardnerís Syndrome is inherited as an autosomal dominant trait; a person who carries the gene for Gardnerís Syndrome will eventually develop the disease.  Genetic counseling is strongly recommended to anyone with a family history of this disease.  A new test is now available to couples who are at risk of passing the disease on to their child.  Pre-Implantation Genetic Diagnosis (PGD) examines the embryos created through IVF for genetic defects such as the Gardner Syndrome gene.  Only embryos that do not contain the defective gene are implanted into the mother.  This give couples the assurance that they will not pass on a debilitating disease to their children.



Click here for more information on PGD


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Last modified: 06/09/04