Question: What is (are) Gardner syndrome ?
Answer: Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications.
Source: GARD

Question: What are the symptoms of Gardner syndrome ?
Answer: What are the signs and symptoms of Gardner syndrome? The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other features of Gardner syndrome may include: Dental abnormalities Fundic gland or adenomatous polyps of the stomach Adenomatous polyps of the small intestines Osteomas (benign bone growths) Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina) Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas Adrenal masses Desmoid tumors Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland) The Human Phenotype Ontology provides the following list of signs and symptoms for Gardner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adenomatous colonic polyposis 90% Intestinal polyposis 90% Duodenal polyposis 50% Neoplasm of the colon 50% Colon cancer 33% Multiple gastric polyps 33% Adrenocortical adenoma 13% Carious teeth 7.5% Congenital hypertrophy of retinal pigment epithelium 7.5% Delayed eruption of teeth 7.5% Epidermoid cyst 7.5% Fibroadenoma of the breast 7.5% Increased number of teeth 7.5% Irregular hyperpigmentation 7.5% Multiple lipomas 7.5% Neoplasm of the nervous system 7.5% Odontogenic neoplasm 7.5% Osteoma 7.5% Sarcoma 7.5% Unerupted tooth 7.5% Hepatoblastoma 1.6% Medulloblastoma 1% Duodenal adenocarcinoma % Papillary thyroid carcinoma % Adrenocortical carcinoma - Astrocytoma - Autosomal dominant inheritance - Hyperpigmentation of the skin - Keloids - Odontoma - Small intestine carcinoid - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Gardner syndrome ?
Answer: What causes Gardner syndrome? Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a "tumor suppressor." Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. Mutations in the APC gene lead to uncontrolled cell growth which results in the development of the polyps, tumors and cancers that can be associated with Gardner syndrome. The symptoms found in each person and the severity of the condition depend on which part of the APC gene is mutated.
Source: GARD

Question: Is Gardner syndrome inherited ?
Answer: How is Gardner syndrome inherited? Gardner syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Gardner syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Source: GARD

Question: What are the treatments for Gardner syndrome ?
Answer: How might Gardner syndrome be treated? Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. This screening regimen may include: Sigmoidoscopy or colonoscopy every one to two years, beginning at age ten to 12 years. Once polyps are detected, colonoscopy is recommended annually until colectomy (removal of colon). EGD (esophagogastroduodenoscopy) beginning by age 25 and repeated every one to three years. Annual physical examination, including a thorough thyroid evaluation beginning in the late teenage years. Screening for desmoid tumors and hepatoblastoma (a specific type of liver cancer that is diagnosed in young children) may also be recommended in some people. A colectomy is usually recommended when more than 20 or 30 polyps and/or multiple advanced polyps are identified. Sulindac, a nonsteroidal anti-inflammatory drug (NSAIDs), is sometimes prescribed in people with Gardner syndrome who have had a colectomy to treat polyps in the remaining rectum. Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti-estrogen medications, chemotherapy and/or radiation therapy. Osteomas (bony growths) may be removed for cosmetic reasons. Treatment of epidermoid cysts in Gardner syndrome is similar to that used for ordinary cysts and involves excision. For more information on the treatment and management of Gardner syndrome, please click here.
Source: GARD