Diagnosis

Diagnosis is Vital

In the past is was common for families to remain undiagnosed for several generations despite having been seen by doctors from a variety of disciplines.

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Prognosis

Because of the variability, presumably due to the other genes in a dosage sensitive pathway, members of a family may be affected to different degrees.

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Diagnostic Criteria

Gorlin Syndrome is diagnosed in individuals with two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria.

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Management of Condition

Treatment is best provided by specialists with experience of the condition and should include surgical excision of keratocysts (jaw cysts), early treatment of BCCs to ensure their complete eradication and to preserve normal tissue to prevent disfigurement, preservation of ovarian tissue whenever ovarian fibromas require surgical treatment.

Read more: Management of Condition


 Originally produced by Professor P. A. Farndon, Clinical Geneticist, Jim Costello (deceased) and Margaret Costello.  We are reliant on a team of medical advisors for the clinical content of the website. We are grateful for their continuing support. 
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