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Where on Chromosome is Problem?

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 probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.

What Is the Problem?

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones . This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction ; a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth . The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.
Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.

What is the Prognosis?

Surgery can be done to remove closed sutures and expand and reshape the skull. The timing and recommendations for this surgery is based upon the type and number of closed sutures.

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