Gardner's syndrome
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2008-07-13T00:13:21Z
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Date the maintenance tags or general fixes
{{Refimprove|date=July 2008}}
{{Infobox_Disease |
Name = Gardner's syndrome |
Image = Gardner1.jpg|
Caption = |
DiseasesDB = 5094 |
ICD10 = |
ICD9 = |
ICDO = |
OMIM = 175100 |
MedlinePlus = |
eMedicineSubj = med |
eMedicineTopic = 2712 |
eMedicine_mult = {{eMedicine2|derm|163}} |
MeshID = D005736 |
}}
'''Gardner's syndrome''' is a [[Genetics|genetic]] disorder characterized by the presence of multiple polyps in the [[colon (anatomy)|colon]] together with tumors outside the colon. The extracolonic tumors may include [[osteoma]]s of the skull, [[thyroid cancer]], [[epidermoid cyst]]s, [[fibroma]]s and [[sebaceous cyst]]s. The countless [[polyps]] in the colon predispose to the development of [[colon cancer]].
==Inheritance==
[[Image:Autodominant.jpg|thumb|right|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 tooth|impacted]] and [[supernumerary teeth]], multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple [[odontoma]]s, 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.<ref>{{cite journal |author=Gardner EJ |title=A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum |journal=[[American Journal of Human Genetics|Am J Hum Genet]]. |volume=3 |pages=167–176 |year=1951}}</ref> 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.{{Fact|date=July 2008}}
==References==
{{reflist}}
[[Category:Genetic disorders]]
[[Category:Oral pathology]]
{{Genetic-disorder-stub}}
[[de:Gardner-Syndrom]]
[[fr:Syndrome de Gardner]]
[[pl:Zespół Gardnera]]
[[zh:嘉得氏症]]