Crouzon Syndrome

What Is Crouzon Syndrome?

Crouzon syndrome is a genetic disorder that is caused by the premature fusion of certain skull bones (craniosynostosis). This premature fusion affects the shape of the child's head and face.

If your child has Crouzon syndrome, you probably have or know someone in your family who also has the syndrome, because, in 50% of cases, Crouzon is an inherited birth defect. The severity of Crouzon will vary in each family.

Even if you consulted a geneticist before getting pregnant, it is still normal to be have many questions and concerns regarding your child’s specific complications and his or her treatment process. We understand it is never easy to have your child go through surgical treatment and so we offer a range of treatment options.

Our internationally recognized team of surgeons and cross-disciplinary specialists work together to provide top-level quality care for your child while offering the utmost concern and support for your family.

Causes of Crouzon Syndrome

Crouzon syndrome is almost always an inherited birth defect. It is an autosomal dominant condition, which means that only one parent needs to carry the gene, providing a 50 percent chance that the child will be born with Crouzon syndrome. This syndrome generally appears in every generation of a family, with a frequency of one out of two children inheriting the syndrome. 

If your child is the first to show Crouzon syndrome, rest assured there is nothing that occurred during the pregnancy to cause the syndrome nor anything that could have been done to prevent it. At times, Crouzon syndrome can appear as a new condition in the family, resulting most likely from a mutated gene. 

It is normal to wonder if you will have another child with Crouzon syndrome. If Crouzon syndrome is an inherited syndrome in your family, then there is a 50 percent chance that all your children may get Crouzon syndrome. If your child is the first to show the syndrome, then the chances of having another child with Crouzon syndrome is minimal (<4%). 

Because your child has Crouzon syndrome, there is a 50 percent chance that he or she will pass the syndrome on to each child. 

Features of Crouzon Syndrome

If Crouzon syndrome is in your family’s history, you will want to identify it in your child as soon as possible. Below are some traits that your doctor will look for:
  • A retruded upper jaw, which means it fails to grow forward properly
  • The upper teeth and upper jaw lie behind the lower jaw teeth
  • Cheeks may be flat
  • Nose may be short
  • Abnormally shaped eye sockets, causing “bulging” eyes
  • Difficulty in closing the eyes
  • A flattening in the front of the skull
Complications that can be associated with Crouzon syndrome include:
  • Dental problems
  • Hearing loss
  • Cleft lip and palate
  • Airway obstruction 
  • Cervical spine anomalies 
  • Complications related to the eye 
  • Headaches or seizures
Most children with Crouzon syndrome are of normal intelligence if provided timely treatment.

This list should be used as a guideline. Not every sign is included. If your child has one or more of these indications, it does not mean that he or she has Crouzon syndrome. If you are concerned that your child might have Crouzon syndrome, please make an appointment with your child's doctor for an initial evaluation.

Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development.

Treatments for Crouzon Syndrome

Crouzon syndrome is complex and can require several disciplines, such as craniofacial surgery, neurosurgery, oral surgery, orthodontia, and ophthalmology. At the Yale Craniofacial Program, we know that the surgical process can feel intimidating to parents. That is why our team of leading craniofacial specialists creates a personalized plan for your child. We will walk you through the process, step by step, so that you understand what you and your child can expect.

Initial treatment for your child may include:
  • Dental impressions
  • X-rays of the lower jaw
  • CT scan to assess skull growth
  • Hearing tests
  • Eye exam
Depending on the severity of the syndrome, the surgeries will take place in steps, generally beginning with surgery to stop the cranial sutures from fusing.

During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
  • Simulate the outcome of proposed surgical plans and adjust any discrepancies before surgery
  • Follow and monitor your child’s condition during the post-surgical healing process
  • Monitor your child’s long-term development
If a CT scan shows that the skull is not growing fast enough for the brain expansion, surgical treatment will be required to enlarge the skull. In most cases, the child remains in the hospital for only three to four days.

Your child may need additional surgeries to correct the jaw and eye sockets, and orthodontics to straighten the teeth and to keep the mouth from crowding.