The skull is made up of several flat, plate-like bones (cranial bones) connected by seam-like joints (sutures). These sutures allow neighbouring cranial bones to slide over each other during birth, and allow growth of the brain without restriction during childhood. The growth of the face involves similar sutures between the facial bones.
In Apert syndrome, cranial and facial sutures begin to fuse early (craniosynostosis). This early fusion alters the shape of the skull, which can raise pressure within the skull (intracranial pressure) and has consequences for development of the brain.
Children with Apert syndrome are also born with the skin and bones of the fingers and toes fused (syndactyly).
Common problems found in children with Apert syndrome include:
- abnormal shaped head and face
- malformations of the brain - these are usually fairly minor
- increased pressure inside the skull (raised intracranial pressure)
- cleft palate (see entry Cleft Lip and/or Palate)
- prominence of the eyes. The eyes can be damaged if they cannot close fully
- increased risk of ear infections, which can lead to hearing loss (see entry Deafness)
- obstruction of the airways
- dental problems related to wrongly positioned teeth
- variable learning disability - usually mild to moderate
Problems with the heart and blood vessels, stomach, intestines, kidneys and genitals can also occasionally occur.