Key Points about Crouzon Syndrome

  • This condition occurs when there is abnormal fusion between some of the skull and facial bones.
  • This abnormal fusion then prevents normal growth from occurring.

Crouzon syndrome causes

Most cases are not inherited, which means there is usually a mutation in the child’s fibroblast growth factor receptor genes located on chromosome 10 or chromosome 4.

Crouzon syndrome risk factors

Crouzon syndrome can be passed on from a 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.

Crouzon syndrome symptoms

The abnormal fusion from this disease affects the shape of the head, the appearance of the face and the relationship of the teeth. The eyes can be prominent and there is also the possibility of vision problems. Issues with nose and upper jaw shape are factors as well. Crouzon syndrome is not expected to affect intellect.

Crouzon syndrome diagnosis

This disease is typically diagnosed by a craniofacial surgeon and geneticist. Usually an appointment will occur along with a possible X-ray, CT scan and even genetic testing.

Crouzon syndrome treatment

Crouzon syndrome is a complex condition that requires multiple stages of treatment over the course of the patient’s lifetime. It is treated by performing surgery to the skull. Oftentimes, the upper and middle face will require surgery as well. The first goal is to open the closed sutures to prevent problems with high pressure in the brain and allow the brain to grow normally. The second goal is to obtain a normal shape of the skull and face. The timing and type of surgery depends on your child’s condition and your surgeon. Our comprehensive and specialized team includes a geneticist, craniofacial plastic surgeon, pediatric neurosurgeon, and dental specialists who will care for your child every step of the way.