Crouzon syndrome

What is Crouzon syndrome?

Crouzon Syndrome syndrome is a genetic condition which results in the premature fusion of the skull bones. This premature fusing causes most of the serious symptoms of the condition.

Crouzon syndrome occurs in around 1 in every 16 million live births. It is the most common craniosynostosis syndrome.

What gene changes cause Crouzon syndrome?

Mutations to the FGFR2 gene, considered to be responsible for the premature formation of the bones in affected individuals. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Crouzon syndrome?

The main symptoms of the syndrome include unique facial characteristics such as a sunken face, depressed nasal bridge, and a beak nose. Other facial characteristics include a large forehead, protruding eyes, and a narrow palate which may or may not be cleft.

Other health conditions associated with the syndrome include hearing loss, fused bones and conditions that are a consequence of the bone fusion including sleep apnea, and breathing obstructions.

How does someone get tested for Crouzon syndrome?

The initial testing for Crouzon syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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