Crouzon syndrome

Overview

Type of disease: Rare conditions

Crouzon syndrome is a genetic disorder that causes the skull bones to fuse too early in development (craniosynostosis), causing changes to the shape of the head as well as abnormal facial features. These features may include wide-set eyes, a beaked nose, and a small upper jaw. Other features may include dental problems, hearing loss, and an opening in the lip and roof of the mouth (cleft lip and palate). Crouzon syndrome is the most common genetic craniosynostosis syndrome.

Crouzon syndrome is caused by a change (mutation) in the FGFR2 gene and is inherited in an autosomal dominant way, which means a mutation in only one of the two gene copies a person has is enough to cause the condition. The FGFR2 gene provides an instruction for the body to make a protein that tells bones to grow and fuse together. When there is a mutation in the FGFR2 gene, the skull bones fuse too early. Some cases of Crouzon syndrome occur due to a new (de novo) mutation in the affected individual, while other cases are inherited from an affected parent.

Crouzon syndrome is considered in a child who has an abnormal head shape and facial features. A doctor may order imaging studies, such as a head CT or MRI, to look for clues of the condition. Genetic testing can be used to confirm the diagnosis. Surgery may be needed to fix the skull bone abnormalities. If your child has been diagnosed with Crouzon syndrome, talk with their doctor about all current treatment options. Support groups can provide additional information.

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