Crouzon is a syndrome characterized by the premature fusion of
cranialfacial sutures (known as craniosynostosis), leading to facial
abnormalities. It is the most common craniosynostosis syndrome.
Crouzon syndrome was first described by a French doctor named Octave Crouzon. It was initially known as craniofacial dysostosis.
Like most other craniosynostosis syndromes, Crouzon syndrome results from a mutation in the gene that produces
fibroblast growth factor receptor 2, or FGFR2. This
protein is responsible for signalling immature cells to become bone
cells. The syndrome is autosomal dominant, meaning that only one
mutated gene need be present to cause the syndrome. The risk
of a person with Crouzon passing the mutation to their child is
Genetics Home Reference
Gener Reviews: Craniosynostosis