Crouzon syndrome is a genetic disorder which affects the child’s skull and face. This condition occurs when there is abnormal fusion between some of the bones of the skull and the bones of the face, therefore preventing normal growth. Such growth affects the shape of the head, the appearance of the face, and the relationship of the teeth.
What causes Crouzon syndrome?
Crouzon syndrome is a very rare genetic disorder. It can be passed on from the child’s parents through autosomal dominant inheritance. This means that only one parent needs to have the abnormal gene for the child to inherit the disease.
The majority of cases are not inherited, which means that there was a new mutation in the child’s fibroblast growth factor receptor genes located on chromosome 10 or chromosome 4.
How is Crouzon syndrome treated?
Crouzon syndrome is a complex condition that requires multiple stages of treatment over the course of the patient’s lifetime. Surgery is required to correct craniosynostosis, in which the seams of the skull fuse too early and obstruct normal brain development. To treat this, surgery is performed to open the seams of the skull (also called sutures); oftentimes, the upper and middle face will also require surgery. The first goal of surgery is to open the closed sutures to prevent problems with high pressure in the brain and allow the brain to grow normally, and the second goal is to obtain a normal shape of the skull and face. The timing and type of surgery your child will have depends on your child’s condition and your surgeon.