Crouzon Syndrome Support Group

Crouzon Syndrome is a type of genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects.

This syndrome is named after Octave Crouzon, a French physician who first described this disorder. She noted the affected patients were a mother and her daughter implying a genetic basis. First called "craniofacial dysostosis", the disorder was characterized by a number of clinical features, which to this date has no known single, initiating defect to account for all of its characteristics.

Now known as Crouzon Syndrome, the disease can be described by the rudimentary meanings of its former name. What occurs in the disease is that an infant's skull and facial bones, while in development, fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures lead to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the metopic suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures), oxycephaly (fusion of most sutures).