The skull is made up of flat plate-like bones (cranial bones) connected by seam-like joints (sutures). These joints allow neighbouring cranial bones to be mobile, so that they can slide over each other during birth and allow the growth of the brain during childhood. In Crouzon syndrome, during pregnancy or within the first year of life the cranial (or facial) sutures begin to fuse early (craniosynostosis). This alters the normal pattern of skull growth and therefore the shape of the skull.
- altered shape of the top of the head
- raised intracranial pressure (the pressure inside the skull)
- underdevelopment of mid-face
- shallow eye sockets with prominent eyes
- abnormal arrangement of teeth
- normal appearance of the hands and feet.
Although affected children may have a range of clinical problems, the head shape is usually the most striking initial feature. At the outset the major concerns are the ease of breathing, potential feeding problems, eye protection and remedying raised intracranial pressure.