Basal Cell Nevus Syndrome 2 (BCNS2)
OMIM number: 620343
Comments closing date: 27/11/2026
SUFU-related Gorlin syndrome is a rare inherited condition caused by a change in the SUFU gene. It increases the risk of developing certain tumours and other health problems, although the features and severity can vary considerably from person to person. The main features include an increased risk of medulloblastoma, a type of brain tumour that mainly occurs in very young children, particularly around 1–2 years of age, and meningiomas, which are usually non-cancerous tumours affecting the lining around the brain and spinal cord. People can also develop basal cell skin cancers, sometimes from a young age. Other possible features include a larger-than-average head size, certain facial features, abnormalities of the ribs or spine, calcium deposits within parts of the brain, and non-cancerous ovarian tumours called ovarian fibromas. Unlike the more common form of Gorlin syndrome caused by changes in the PTCH1 gene, jaw cysts have not been reported in SUFU-related Gorlin syndrome.
