Crouzon Syndrome
Crouzon syndrome, a type of craniosynostosis, is primarily a genetic disorder that affects the appearance of the head and face. The condition involves the premature fusing of the skull bones, which have a ripple effect on the shape and development of the facial features. Our skilled craniofacial plastic surgeon, Dr. Eric Payne, has extensive experience diagnosing and treating the signs of Crouzon syndrome. In addition to providing compassionate care and professional guidance, he and his multispecialty team utilize the most advanced reconstruction techniques available.
For more information about Crouzon syndrome, or if you wish to schedule a consultation with Dr. Payne, please contact our office today.
What is Crouzon syndrome?
The most common type of syndromic craniosynostosis, Crouzon syndrome is a condition that occurs due to the mutation of two genes, FGFR-2 and FGFR-3. Although the mutation can be spontaneous, in most cases it is inherited. Craniosynostosis is noted most commonly by premature fusion of the coronal sutures leading to restricted skull growth. The disorder begins to develop in the embryonic stage when your child is still growing in the womb, and the facial deformities caused by Crouzon syndrome are often recognizable at birth. The facial features typically represent a small midface or sunken facial appearance with large eyes. The teeth do not come together in the front, leading to an anterior open bite. There are no limb abnormalities that can distinguish Crouzon syndrome from other craniosynostosis syndromes such as Apert syndrome. Crouzon syndrome can range from mild to severe, and the treatment plan will be personalized to suit the singular needs of the patient. We understand that this process can be emotional for you and your family, and Dr. Payne is committed to easing discomfort throughout the experience. It’s important to note, modern treatment options make it possible to restore facial and cranial shape.
How does Crouzon syndrome occur?
Parents are often concerned that their child’s disorder is the result of something they might have done wrong during pregnancy, but this is not the case when there is no family history of Crouzon syndrome. Crouzon syndrome can happen due to a random genetic mutation, not because you did or failed to do something during development.
Can Crouzon syndrome be passed on through the family?
In most cases, Crouzon syndrome occurs in families with a known history of the disease, and a parent with the condition has a 50 percent chance of passing it on to their child. Crouzon syndrome is an autosomal dominant disorder, meaning only one parent needs to carry the gene to transmit it. Although most cases are due to genetic predisposition, Crouzon syndrome can also happen randomly. For unknown reasons, the associated genes may spontaneously mutate. Children with Crouzon syndrome carry the altered gene for the disorder whether they inherited it or developed it unexpectedly. Therefore, the individual with Crouzon syndrome may pass on the condition to future generations regardless of whether there was a preexisting family history.
What are the signs of Crouzon syndrome?
The skull is comprised of several joints, called sutures, which remain soft or flexible while the brain is growing. Crouzon syndrome occurs when some of the sutures located in the front of the skull lock into place too soon. As a result, the brain grows excessively upward and sideways rather than evenly in all directions. In addition to the malformation of the skull, the midface likely will be underdeveloped, and the jaw may also be affected. Furthermore, Crouzon syndrome may exist on its own or in combination with other disorders, which will affect the number, severity, and appearance of the signs. Common signs of Crouzon syndrome include:
- Bulging, prominent, and/or wide eyes
- Difficulty closing the eyes
- Short nose
- Flat cheeks
- Low-sitting ears
- Underbite, with the lower jaw pushing forward of the upper jaw
- Open bite, where the front teeth do not come together
- Flat front skull
Crouzon syndrome has no effect on intelligence; however, in severe cases where the sutures are fully fused at birth there is a potential risk of brain damage due to inadequate space for the brain to grow. For this reason, it’s important to have a child with Crouzon syndrome evaluated promptly.
What are the treatment options?
As a complex disorder that affects several aspects of the face, jaw, and skull, Crouzon syndrome typically requires collaboration between multiple medical disciplines. Fortunately, modern treatment options make it possible to restore the shape of the soft and bony tissues with excellent results. To begin, diagnostic tests will be performed to help determine the extent of the signs and to guide development of the customized treatment plan. Tests may include dental impressions, X-rays, CT scans, hearing tests, and eye exams. 3D imaging technology is one of the most useful tools at our disposal, and we will utilize it to achieve the most accurate diagnosis possible.
Every patient’s needs are unique, and most surgical plans will be performed in stages, beginning with an operation to open the premature fusion of the cranial sutures. Supplemental procedures may be necessary over time if skull growth is slower than required for brain expansion. Facial reconstruction techniques may also be recommended to modify the shape of the eye sockets, cheeks, and jaw. Furthermore, orthodontics can address bite misalignment (malocclusion) and crooked or crowded teeth.
The initial surgery typically involves the removal of the front portion of the skull, which then can be joined together with the orbital ridges using small, dissolvable plates and permanent bone grafts. The bones will be positioned in such a way as to allow the brain to develop naturally and to create a facial appearance that is more proportional. Jaw advancement surgery is typically performed after the skull procedure. A technique called Lefort III distraction osteogenesis is used to move the upper jaw forward over time to correct the small midface. The upper jaw will be moved forward and into the correct position using a half circle halo device to slowly pull the face forward over several weeks. Once in the appropriate position, the jaw bone is allowed to become solid before removing the external distraction device. Some patients may also need lower jaw surgery, which may be completed in a separate operation.
What is the recovery process like?
Following surgery, your child will remain in the Intensive Care Unit (ICU) for one to two days. After the ICU, the patient usually remains in the hospital for about two to four days. During this period your child will be given intravenous fluids and allowed a liquid or soft-food diet. Bandages and drains typically will be utilized, and Dr. Payne will provide information on how to care for your child during recovery. Dr. Payne typically does not use corrective head bands or helmets after skull surgery. Your child’s safety and well-being are our primary concerns, and recovery and development will be monitored to help ensure long-term health. Depending on your child’s progress, subsequent corrective procedures may be required to enhance the results.
If you have additional questions about Crouzon syndrome or craniosynostosis, please contact our office today. Our friendly and knowledgeable team can provide additional information or help you schedule a consultation.
