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GARDNER'S SYNDROME

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erin chumrley

on 6 June 2013

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Transcript of GARDNER'S SYNDROME

What IS Gardner's Syndrome? WHO discovered Gardner's Syndrome? GARDNER'S SYNDROME DEFECTS OF GARDNER'S SYNDROME There are many tests to detect the presence of Gardner's syndrome. There is a complete blood cell count, carcinoembryonic antigen testing, thyroid function tests, and liver function tests; which are done in a laboratory.
*For imaging studies, there is a CT scan of the abdomen and pelvis, a panoramic dental radiograph, and a skull radiograph.
* Other tests include a slit-lamp exam, and an indirect ophthalmoscopy. TREATMENT FOR GARDNER'S by:
ERIN CHUMRLEY
JULIA KELLY
ALEX BOSTON PICTURES OF POLYPS IN THE COLON AND SMALL INTESTINE * Gardner's Syndrome is a rare genetic disorder identified by the growth of multiple polyps in places like the colon or around the teeth.

* People with Gardner's may also have bony tumors in the skull and fatty cysts (sacs containing liquid or fibrous tumors in the skin. In 1951, a college genetics professor by the name of Eldon J. Gardner (for who the disease was named after) discovered and described Gardner's. He included found characteristics of Gardner's, and he found that a MUTATED FORM of the gene APC was responsible for Gardner's appearing in various people. TESTS TO DETECT GARDNER'S SYNDROME * The defects that are involved with the Syndrome are a noncancerous growth of polyps in the colon as early as a person's teenage years. Unless the colon is removed, these polyps can become cancerous

*There are also fibrous tumors which usually occur in the tissue covering the intestines and can lead to cancer.

*The tumors are usually as big as a quarter; they may be larger or smaller. They can also occur in a cluster.

*They may occur throughout their stomach, small intestine, and large intestine, and they have a high potential for becoming cancerous

* Most of the growths occur in the mouth and usually your dentist or orthodontist find the growths before you do.
* The Gardners syndrome is a long-acting derivative of indomethacin, has been shown to produce regression of rectal polyps in 80% of cases of familial adenomatous polyposis (FAP), after the patient has undergone total colectomy.

* In order for the syndrome to get better is to get every growths surgically removed after that is done you can take a medication to help prevent it from coming back * Gardner's is an Autosomal Dominant mutated gene (APC is the name of the gene)

*If a parent has the gene for Gardner's, they can pass down a copy of that gene to their children. Those children have a a 50% chance of getting Gardner's Syndrome

* Its is not sex linked, and can occur in all racial/ethnic groups

* The average age of diagnosis of a person for Gardner's is around 22 years old

*Gardner's is a rare mutation, and can be passed down from generation to generation. DESCRIPTION & SYMPTOMS OF GARDNER'S * The first sign of Gardner's is the presence of epidermal (skin) cysts on the face, arms, legs, and scalp.

* Later signs are the presence of polyps in the intestinal tract that usually form during puberty.

* Between the ages of 30 and 50, the polyps & cysts can become cancerous

* Other symptoms include painless rectal bleeding, abdominal pain, or diarrhea with mucus or blood in it

* A person with gardner's may also have extra teeth and soft tissue tumors FUN FACTS *The chance that polyps will turn into cancer in people with gardner's is 100%

*The APC gene is connected to Gardner syndrome.

* APC stands for adenomatous polyposis coli.

* A mutation in the APC gene gives a person an increased lifetime risk of developing polyps, mild tumors, and cancer. Who suffers from Gardner's the most? * The only people who suffer from gardner's syndrome are people who inherit the gene from their parents.
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