what's in a gene?

Every person has thousands of genes in each cell in their body. Depending on the type of cell, genes are switched on and off as necessary for function. The FGFR2 gene is usually switched on in bone cells, skin cells, blood vessels, thyroid cells, and brain cells - all places that need fibroblast growth cell receptor proteins for development. [1]

Every person carries two copies of the FGFR2 gene in their body. Crouzon syndrome is an autosomal dominant disease, which means just one one copy needs to be the altered version for them to be affected, and it doesn't matter if you're male or female. If an affected individual has children with an unaffected person, their children have a 50% chance of inheriting the syndrome, as seen in Figure 2.

However, Crouzon syndrome is not always passed on from parent to child. It can also occur due to spontaneous alterations in the gene, typically diagnosed in the first two years of life.