Crouzon Syndrome

What is Crouzon syndrome?

Crouzon syndrome is a rare genetic disorder that causes the fibrous joints (sutures) between your baby’s skull bones to fuse too early (craniosynostosis). When your baby’s sutures fuse too early, it prevents their skull from growing properly. This can affect the shape of their head and face. Crouzon syndrome is one of many disorders related to the development of your baby’s skull and face (craniofacial).

Who does Crouzon syndrome affect?

Crouzon syndrome is a genetic condition that can affect anyone. It occurs because of a genetic change (mutation) that causes a gene not to work properly. Crouzon syndrome can be inherited or acquired through a new genetic mutation.

If your child inherits Crouzon syndrome, only one parent had to carry and pass on the mutated gene (autosomal dominant). A parent with Crouzon syndrome has a 50% chance of passing it on to their child.

Crouzon syndrome can also occur because of a spontaneous genetic mutation in the egg or sperm cell. In these cases, Crouzon syndrome isn’t inherited from the parents. New genetic changes in sperm cells happen more often if a father is older than 40 to 45 when their baby is born.

How common is Crouzon syndrome?

Crouzon syndrome occurs in an estimated 1 out of every 60,000 live births. Crouzon syndrome is one of the most frequently seen types of craniosynostosis syndrome. Crouzon syndrome is the diagnosis in about 4.8% of all craniosynostosis cases.

What are the symptoms of Crouzon syndrome?

Crouzon syndrome affects the development of your baby’s skull and facial (craniofacial) bones. The physical characteristics of Crouzon syndrome can vary from mild to severe. These characteristics include:

• Wide-set eyes (hypertelorism).
• Bulging eyeballs (proptosis).
• Crossed eyes (strabismus).
• Protruding forehead.
• Small, beak-shaped nose.
• Underdeveloped jaw.
• Cleft lip and/or palate.

What are the complications of Crouzon syndrome?

Because of the physical effects of Crouzon syndrome, your child may experience complications. These complications can include:

• Vision problems.
• Dental problems.
• Hearing loss.
• Breathing problems.
• Hydrocephalus.
• Rarely, intellectual disability.

What causes Crouzon syndrome?

A genetic alteration (mutation) in the FGFR2 gene causes Crouzon syndrome. The FGFR2 gene gives your body instructions to make a protein called fibroblast growth factor receptor. This protein triggers immature cells to become bone cells during your baby’s development. When there’s a mutation in the FGFR2 gene, the FGFR2 protein is overactive and triggers the immature cells too fast. This causes your baby’s skull bones to fuse prematurely.

How is Crouzon syndrome diagnosed?

Your baby’s healthcare provider will typically diagnose your baby at birth. They’ll give your baby a physical examination. Your baby’s craniofacial characteristics can indicate Crouzon syndrome. Your baby’s healthcare provider will also ask about any family history of the disorder.

What tests are done to diagnose Crouzon syndrome?

Your baby’s healthcare provider may request several tests to confirm a diagnosis of Crouzon syndrome. These tests might include:

• Computed tomography (CT) scan: A CT scan shows cross-sectional images of your baby’s internal structures.
• Magnetic resonance imaging (MRI) scan: An MRI scan creates detailed cross-sectional images of your baby’s organs and tissues.
• Molecular genetic testing: Genetic testing can detect mutations in the FGFR2 gene that cause the disorder.

How is Crouzon syndrome treated?

A team of healthcare providers trained in craniofacial disorders will provide treatment for your baby. This team may include:

• Your baby’s pediatrician.
• A neurosurgeon.
• A plastic surgeon.
• A dental specialist.
• A genetic counselor.
• A social worker.
• An ears, nose and throat (ENT) doctor (otolaryngologist).
• An audiologist.
• An eye doctor (ophthalmologist).

Crouzon syndrome surgery is the main form of treatment for the condition. A neurosurgeon will perform surgery to:

• Create room within your baby’s skull for their developing brain to grow.
• Relieve pressure in your baby’s skull.
• Improve the appearance of your baby’s head.

However, not all children require surgery. If your baby has mild Crouzon syndrome, their healthcare provider may recommend helmet therapy. With helmet therapy, your baby wears a special medical helmet that gently reshapes their skull over time.

How do I manage the symptoms of Crouzon syndrome?

In addition to treatment, your baby’s healthcare provider may recommend several therapies. These include:

• Psychosocial therapy: Psychosocial therapists (social workers) provide mental health support for you, your child and the rest of your family.
• Genetic counseling: Genetic counselors can confirm your baby’s diagnosis and offer counseling.
• Physical therapy: Physical therapists help with physical exercises to stretch and strengthen your child’s muscles and tendons.
• Occupational therapy: Occupational therapists help with fine motor skills, visual perception, cognitive reasoning and sensory processing.
• Speech therapy: Speech therapists help with speech, language, communication, and feeding and swallowing skills.

How can I reduce my risk of having a child with Crouzon syndrome?

Because Crouzon syndrome is the result of a rare genetic mutation, there’s no way to prevent the condition. But a parent with Crouzon syndrome can avoid passing on the condition by using a combination of in vitro fertilization and genetic testing of the embryos they use.

Nothing you did before or after pregnancy caused it. If you plan on becoming pregnant, you can talk with your healthcare provider about genetic testing, especially if you have Crouzon syndrome or a family history of the condition. Genetic testing can assess your risk of having a baby with a genetic condition.

What can I expect if I have a child with Crouzon syndrome?

The outlook for Crouzon syndrome depends on diagnosis and treatment. Your baby will need immediate medical care and follow-up. However, if treated early, your baby will have a normal life expectancy. While delays in development can occur, almost all people with Crouzon syndrome have a normal IQ.

What’s the difference between Crouzon syndrome and Apert syndrome?

Crouzon syndrome and Apert syndrome are both craniosynostosis syndromes caused by a mutated FGFR2 gene. Apert syndrome is similar but more severe. With Apert syndrome, your baby has the craniofacial characteristics of Crouzon syndrome. In addition, they may have fused or webbed fingers and toes. They may have short fingers and broad thumbs and big toes. Intellectual disability is also more common in Apert syndrome.

What’s the difference between Crouzon syndrome and Pfeiffer syndrome?

Crouzon syndrome and Pfeiffer syndrome are both craniosynostosis syndromes caused by a mutated FGFR2 gene. Three types of Pfeiffer syndrome exist with varying degrees of severity. With Pfeiffer syndrome, your baby has the craniofacial characteristics of Crouzon syndrome. They also have short, broad big toes and thumbs. In Pfeiffer syndrome types 2 and 3, the craniofacial characteristics are more severe. Mental and neurological problems are more likely, as well.

A note from Cleveland Clinic

Receiving the news that your baby has a rare genetic disorder can be overwhelming and scary. But it’s important to keep in mind that Crouzon syndrome isn’t a life-threatening condition. A team of specialists will work with you and your child to deliver the best possible outcome. And with early diagnosis and treatment, your child can go on to lead a normal, healthy life.