Overview

Crouzon is a syndrome characterized by the premature fusion of cranialfacial sutures (known as craniosynostosis), leading to facial abnormalities. It is the most common craniosynostosis syndrome.

Historical Information

Crouzon syndrome was first described by a French doctor named Octave Crouzon. It was initially known as craniofacial dysostosis.

Characteristics

Genetic Basis

Like most other craniosynostosis syndromes, Crouzon syndrome results from a mutation in the gene that produces fibroblast growth factor receptor 2, or FGFR2. This protein is responsible for signalling immature cells to become bone cells. The syndrome is autosomal dominant, meaning that only one mutated gene need be present to cause the syndrome. The risk of a person with Crouzon passing the mutation to their child is 50%.

Sources:

Genetics Home Reference
Gener Reviews: Craniosynostosis
Craniofacial Institute

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