Definition of Gorlin syndrome

Gorlin syndrome: The nevoid basal cell carcinoma syndrome, a genetic disorder inherited in an autosomal dominant manner and characterized by a broad face, rib malformations, and an extraordinary predisposition to basal cell carcinoma, a type of skin cancer.

The gene for Gorlin syndrome has been mapped to chromosome 9 and has been identified as PTCH, the human homolog of the Drosophila "patched" gene PTC.

The syndrome had been previously described but it was first delineated in its full extent in 1960 by Robert J Gorlin and Robert W Goltz. Although Dr. Gorlin described many syndromes, none is more closely connected with his name than this syndrome. It has also been called the basal cell nevus syndrome (BCNS), nevoid basal cell carcinoma syndrome (NBCCS), and the Gorlin-Goltz syndrome.

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Last Editorial Review: 6/14/2012

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