Crouzon Syndrome

What is Crouzon syndrome?

Crouzon syndrome is a genetic disorder characterised by the premature joining of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.

Many features of Crouzon syndrome result from early fusion of the skull bones during development. 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 (strabismus); 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 (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.

How common is Crouzon syndrome?

Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.

What genes are related to Crouzon syndrome?

Mutations in the FGFR2 gene cause Crouzon syndrome.

The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. This protein plays an important role in bone growth, particularly during embryo development. Mutations in FGFR2 probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.

How do people inherit Crouzon syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

What other names do people use for Crouzon syndrome?

• Craniofacial dysarthrosis
• Craniofacial Dysostosis
• Craniofacial dysostosis syndrome
• Craniofacial dysostosis, type 1; CFD1
• Crouzon craniofacial dysostosis
• Crouzon's Disease
• Crouzons Disease