Gardner

Gardner syndrome is a rare genetic disorder characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, and in rare cases, hepatoblastoma. The syndrome is caused by mutations in the APC gene, and is inherited in an autosomal dominant manner.

Symptoms

The symptoms of Gardner syndrome may vary but can include:

• Multiple polyps in the colon
• Osteomas (bony tumors) especially in the skull
• Soft tissue tumors
• Dental abnormalities
• Various types of skin and soft tissue tumors

Causes

Gardner syndrome is caused by mutations in the APC gene. This gene provides instructions for making a protein that plays a critical role in several cellular processes. The protein helps control how often a cell divides, how it attaches to other cells within a tissue, and whether it moves within or away from a tissue. Mutations in the APC gene disrupt these cellular processes and cause cells to divide and move in an uncontrolled way, leading to the formation of multiple polyps and tumors that are characteristic of Gardner syndrome.

Diagnosis

Diagnosis of Gardner syndrome can be challenging, as symptoms can vary widely among affected individuals. A detailed patient history, clinical examination, and specific medical tests can help in diagnosing this condition. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Gardner syndrome may include surgery to remove the colon if there are many polyps, as well as other treatments for the various symptoms and complications of the syndrome.

Prognosis

The prognosis for individuals with Gardner syndrome varies depending on the severity of symptoms and the individual's response to treatment.

See also

• Familial adenomatous polyposis
• APC gene
• Genetic disorder
• Colon (anatomy)

References

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