WHAT IS IT?
Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Apert syndrome affects an estimated one in 65,000 to 88,000 newborns.
Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in patients with Apert syndrome range from normal to mild or moderate intellectual disability.
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WHAT CAN BE DONE?
Because there are varying situations, the treatments we recommend are dependent on how your child is affected by the syndrome. Our goal is to help your child have as normal life as possible. Here are the things we typically look at:
- Easing breathing
- Keeping the brain healthy
- Protecting the eyes
- Reshaping the skull
- Improving appearance
- Repairing webbed hands and feet
- Etc.
