What is Gardner syndrome?

Gardner syndrome

Gardner syndrome is characterized by multiple small and large intestinal polyps,  osteomas of the skull and jaw and soft tissue tumours (multiple lipomas, fibromas of the mesentery or abdominal wall, and epidermoid cysts).

It is a rare condition and inherited as an autosomal dominant fashion. Like FAP (Familial adenomatous polyposis), the germline mutation in the tumour 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 tumours)



  • Step Up to MRCP Review Note for Part I & Part II by Dr Khaled El Magraby; page: 327, 434

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