We visited a very rare Crouzon syndrome patient

Crouzon syndrome is a rare genetic disorder. It is a form of craniosynostosis, a condition in which there is premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant’s head to grow and expand. Eventually, these bones fuse together to form the skull. In Crouzon syndrome, the sutures fuse prematurely affecting the proper growth of the skull and head and potentially altering the shape and development of the skull. Certain bones in the face may be affected as well. The severity of craniosynostosis can be different in one infant when compared to another. Symptoms primarily include abnormalities of the face and head. Intelligence is usually not affected. Crouzon syndrome is caused by alterations (mutations) in one of the FGFR genes, usually FGFR2, and is inherited in an autosomal dominant manner.