Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene are thought to result in production of an FGFR2 protein with overactive signaling, which causes the bones of the skull to fuse prematurely.
Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Cassio Amaral-Raposo is in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. They are also highly rated in 21 other conditions, according to our data. Their top areas of expertise are Craniofrontonasal Dysplasia, Syndactyly, Acromicric Dysplasia, and Pfeiffer Syndrome.
Cornelia Caron is in Rotterdam, Netherlands. Caron is rated as an Elite expert by MediFind in the treatment of Crouzon Syndrome. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, Acrofrontofacionasal Dysostosis Syndrome, and Goldenhar Disease.
David Dunaway is in London, United Kingdom. Dunaway is rated as a Distinguished expert by MediFind in the treatment of Crouzon Syndrome. He is also highly rated in 21 other conditions, according to our data. His top areas of expertise are Crouzon Syndrome, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Acrofrontofacionasal Dysostosis Syndrome.
Published Date:updated Last, January
Published By: National Institutes of Health