Gardner's syndrome

Gardner's syndrome
OMIM	175100
DiseasesDB	5094
MedlinePlus	000266
eMedicine	med/2712  derm/163
MeSH	D005736

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Gardner's syndrome is a 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 sebaceous cysts. The countless polyps in the colon predispose to the development of colon cancer.

Inheritance

Gardner's syndrome has an autosomal dominant pattern of inheritance.

Gardner's syndrome is inherited in an autosomal dominant manner. Typically, one parent has Gardner's syndrome. Each of their children, male and female alike, are at 50% risk of inheriting the gene for Gardner's syndrome and manifesting it.

Diagnosis

Gardner's syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon.

Eponym

The syndrome is named for Eldon J. Gardner (1909-1989), a college teacher of genetics, who first described it in 1951. Gardner had been introduced to a large Utah family with the syndrome by a premedical student in his course in genetics.

Genetics

Gardner's syndrome is now known to be caused by mutation in the APC gene located in chromosome 5q21 (band q21 on chromosome 5). This is the same gene as is mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer.

New genetic and molecular information has caused some genetic disorders to be split into multiple entities while other genetic disorders merge into one condition. After existing for most of the second half of the 20th century, Gardner's syndrome has vanished as a separate entity. It has been merged into familial adenomatous polyposis (FAP) and is now considered simply a phenotypic variant of FAP.

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