Few studies of Gorlin syndrome prevalence exist.
The most quoted prevalence figure 1:57,000 comes from a study of a UK population of four million in North West England (Evan at el. Journal of Medical Genetics 1993).
Since publication of the study, an increased awareness of Gorlin syndrome and consequent diagnosis has lead to a revision of the figure to nearer 1:30,827 (Evans D G R et al. Am J Genet A. 2010: 152A: 327-32). The true figure may be even higher, as milder cases may not be recognised.
Ref: Neviod Basal Cell Carcinoma Syndrome. Synonyms: Basal Cell Nevus syndrome (BCNS), Gorlin syndrome, NBCCS. D Gareth Evans, MD, FRCP and Peter A Farndon, MD, FRCP Gene Reviews 20301330 Mar 2013
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