Crouzon Syndrome

Crouzon syndrome is a rare genetic disorder that causes craniosynostosis, a condition that occurs when the fibrous joints (sutures) between your baby’s skull bones fuse too early. During typical development, these sutures allow your baby’s head to grow and expand. Eventually, they fuse to form the skull.

When your baby’s sutures fuse prematurely, it prevents their skull from growing and developing properly. This can affect the shape and features of their head and face. The severity of the condition can vary widely. Crouzon syndrome is one of many disorders related to the development of your baby’s skull and face (craniofacial syndromes).

Other names for Crouzon syndrome include:

• Crouzon craniofacial dysostosis
• Crouzon disease

Crouzon syndrome symptoms

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 may include:

• Bulging eyeballs (proptosis)
• Crossed eyes (strabismus)
• Narrow ear canals
• Protruding forehead
• Short, wide head (brachycephaly)
• Small, beak-shaped nose
• Underdeveloped jaw
• Wide-set eyes (hypertelorism)
• Cleft lip and/or palate (rare)

Crouzon syndrome causes

A harmful genetic change, or pathogenic variant, in the FGFR2 gene causes Crouzon syndrome. The FGFR2 gene gives your body instructions to make a protein called fibroblast growth factor receptor 2. This protein triggers immature cells to become bone cells during fetal development.

When there’s a change 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, leading to the characteristics you see in Crouzon syndrome.

Complications of Crouzon syndrome

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

• Breathing problems
• Dental problems
• Hearing loss
• Hydrocephalus
• Fusion of vertebrae in neck
• Vision problems
• Intellectual disability (rare)

How doctors diagnose Crouzon syndrome

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 provider will also ask about any biological family history of the disorder.

Tests that are used to diagnose Crouzon syndrome

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

• CT scan
• MRI scan
• Genetic testing

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 along with specialists, including:

• Audiologists
• Dentists
• Ears, nose and throat (ENT) doctors (otolaryngologists)
• Eye doctors (ophthalmologists)
• Genetic counselors
• Neurosurgeons
• Plastic surgeons
• Social workers

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
• Enhance the appearance of your baby’s head

But not all children need 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 medical treatment, your baby’s healthcare provider may recommend several different therapies. These include:

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

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

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

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

Because Crouzon syndrome is the result of a rare genetic variation, there’s no way to prevent the condition. Nothing you did before or after pregnancy caused it. If you plan on becoming pregnant, you can talk with your healthcare provider about genetic counseling, especially if you or your family have a history of Crouzon syndrome. Genetic testing can assess your risk of having a baby with a genetic condition.

Crouzon vs. Apert syndrome — what’s the difference?

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

Crouzon vs. Pfeiffer syndrome — what’s the difference?

Crouzon syndrome and Pfeiffer syndrome are both craniosynostosis syndromes caused by a variant in the FGFR2 gene. Three types of Pfeiffer syndrome exist with varying degrees of severity. With all types of 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.