Crouzon Syndrome

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Crouzon syndrome, also known as craniofacial dysostosis, is a rare genetic disorder that is caused by an inherited mutations in one of the FGFR genes (commonly FGFR2). In Crouzon syndrome, the sutures in the skull fuse prematurely, which affects proper growth of the skull, and potentially alters the shape and development of the skull and face. One sign of Crouzon syndrome is a shallowness of the orbits or the bony cavities of the skull that accommodate the eyeballs, which results in the eyeballs to protrude or bulge forward (proptosis). Surgery is the main form of therapy for most, but not all, affected children and is performed to ensure that there is enough room for the developing brain to grow in the skull, to relieve any pressure, and to improve the appearance of the child’s head or face.

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