Crouzon Syndrome

What is Crouzon syndrome?

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face and ultimately causes all kinds of associated complications.

What causes Crouzon syndrome?

Crouzon syndrome is caused by changes (mutations) in the FGFR2 gene. This mutation is inherited in an autosomal dominant manner.

What are the symptoms of Crouzon syndrome?

Common signs and physical abnormalities of Crouzon syndrome include the following:

• Wide-set, bulging eyes
• Strabismus (misalignment of the eyes)
• Small, “beak-shaped” nose
• Underdeveloped upper jaw
• Dental problems
• Hearing loss
• Cleft lip and palate

How is Crouzon syndrome diagnosed?

Crouzon syndrome is typically diagnosed at birth or during infancy based upon a thorough clinical evaluation and an identification of characteristic physical findings of the disease. If these are not sufficient to confirm a diagnosis, a variety of specialized tests can be used. Such testing may include advanced imaging techniques, such as computerized tomography (CT) scanning, magnetic resonance imaging (MRI), or other imaging studies.

What are the available treatments for Crouzon syndrome?

Since there is unfortunately no cure for Crouzon syndrome, treatment is directed toward the specific symptoms that are apparent in each individual. Surgery is the main form of treatment for affected children, but not all children will require surgery. Surgery is performed to create and ensure that there is enough room within the skull for the developing brain to grow, to relieve intracranial pressure (if present), and to improve the appearance of an affected child’s head.

Where can I find out more about Crouzon syndrome?

• NIH
• FACES: The National Craniofacial Association
• National Organization for Rare Disorders (NORD)