CFC syndrome is caused by mutations – or genetic changes – in the BRAF, KRAS, MAP2K1, or MAP2K2 gene. These genes encode proteins of the RAS/MAPK signaling pathway, which transmits information inside our cells.
Now if one of these genes is altered, the corresponding protein will not be produced properly and will no longer be able to correctly perform its normal function. This then results in a faulty transfer of information within the cell, which can lead to congenital anomalies and developmental delays.
There are probably several hundred people around the world who suffer from CFC syndrome. The general frequency of the disease is however unknown. It can be passed on from parents to their children, and is inherited as an autosomal-dominant disease. Spontaneous or new mutations, called de novo mutations, often occur as well.