Gardner syndrome
Gardner syndrome is characterized by multiple small and large
intestinal polyps, osteomas
of the skull and jaw, and soft tissue tumors (multiple lipomas, fibromas of the
mesentery or abdominal wall, and epidermoid cysts).
It is a rare condition and is inherited in an autosomal
dominant fashion. Like FAP (Familial adenomatous polyposis), the germline
mutation in the tumor suppressor APC (adenomatous polyposis coli) gene located
in chromosome 5, is the cause of developing Gardner syndrome.
It carries an increased risk of papillary carcinoma of
the thyroid and colonic carcinoma.
By the age of 21 years, around 7% of the individuals with this syndrome will develop colonic carcinoma, by the age of 39 years it will reach up to 50%, and 90% by the age of 45 years.
Colectomy is recommended once
polyps appear.
Gardner syndrome = FAP + (osteoma and soft tissue tumors)
Additional
Source:
- Step Up to MRCP Review Note for Part I & Part II by Dr Khaled El Magraby; page: 327, 434
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