Crouzon syndrome

Crouzon syndrome is a genetic craniosynostosis disorder in which skull sutures fuse prematurely, altering skull and facial growth. Shallow eye sockets can cause prominent eyes, and most cases involve variants in FGFR2.

FGFR2: FGFR2 is a gene encoding a receptor that regulates cell growth and differentiation during development. Most Crouzon syndrome cases result from variants that alter this receptor's signaling.
Cranial suture: A cranial suture is a fibrous joint connecting bones of the skull. Crouzon syndrome alters skull growth when these joints fuse too early.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with a trait or disorder. Testing can confirm an FGFR2-related diagnosis and inform family counseling.
Apert syndrome: Apert syndrome is an FGFR2-related disorder featuring craniosynostosis and fusion of fingers or toes. Unlike Crouzon syndrome, it characteristically includes syndactyly.
Craniosynostosis: Craniosynostosis is the premature fusion of one or more fibrous joints between skull bones. It is the defining developmental process underlying Crouzon syndrome.
Craniofacial development: Craniofacial development is the formation and growth of the skull and face. The disorder changes the coordinated growth of these connected structures.
Computed tomography: Computed tomography uses X-rays and computer processing to create cross-sectional images of the body. CT imaging can map fused sutures and craniofacial anatomy for treatment planning.
Pfeiffer syndrome: Pfeiffer syndrome is a genetic craniosynostosis disorder often associated with FGFR1 or FGFR2 variants and broad, deviated thumbs and great toes. Limb differences help distinguish it from Crouzon syndrome.
Coronal suture: The coronal suture is the joint between the frontal bone and the parietal bones of the skull. Its early fusion can contribute to the altered head shape seen in Crouzon syndrome.
Orbit (anatomy): The orbit is the bony cavity in the skull that contains an eye and its associated structures. Orbital depth and shape affect eye position in Crouzon syndrome.

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