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Nevoid basal cell carcinoma syndrome
Basal Cell Carcinoma Nevus SyndromeGorlin-Goltz SyndromeGorlin Syndrome
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Overview
Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Description Last Updated: Apr 27, 2015
Description Last Updated: Apr 27, 2015
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Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
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Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.