The condition is characterised by the development of multiple jaw cysts (keratocysts) and/or basal cell carcinomas (BCCs).

Most individuals have palmar and plantar pits (small despressions) on the palms of the hands and the soles of the feet and skeletal anomolies such as bifid ribs (ribs that are divided at the end), or wedge-shaped vertebrae.

Other features occur in the syndrome, although most are rare but these can include ophthalmic problems, cleft lip and palate, ovarian fibromas (a fibroma is a benign tumour), cardiac fibromas which can affect heart function and medulloblastoma (type of brain tumour).

There are nearly 100 features of the syndrome, some of which are described under specific headings within the website, these can be accessed via the main menu.