Crouzon syndrome is a rare genetic condition where certain bones in your baby’s skull fuse too soon. Symptoms include physical characteristics such as wide-set, bulging eyes, underdeveloped jaw and a cleft lip or palate. Crouzon syndrome is caused by a genetic mutation in the FGFR2 gene. The outlook for Crouzon syndrome is positive.
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).
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.
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.
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:
Because of the physical effects of Crouzon syndrome, your child may experience complications. These complications can include:
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.
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.
Your baby’s healthcare provider may request several tests to confirm a diagnosis of Crouzon syndrome. These tests might include:
A team of healthcare providers trained in craniofacial disorders will provide treatment for your baby. This team may include:
Crouzon syndrome surgery is the main form of treatment for the condition. A neurosurgeon will perform surgery to:
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.
In addition to treatment, your baby’s healthcare provider may recommend several therapies. These include:
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.
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.
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.
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.
Last reviewed by a Cleveland Clinic medical professional on 12/10/2021.
Learn more about our editorial process.