Craniosynostosis

Craniosynostosis is a condition that affects your baby’s skull when one or more of the spaces between the skull bones close too soon. This is a congenital birth defect, or a present at birth condition, that affects the structure of part of your baby’s body. 

A newborn’s skull consists of several bones that fit together like a puzzle. Usually, newborns have spaces called sutures between their skull bones. The sutures let the skull size increase to accommodate your baby’s growing brain. The sutures of the skull close (fuse) around the brain by age 3. With craniosynostosis, one or more of the skull bones harden too early and fuse together before the brain finishes growing.

In places where sutures fused too early, your baby’s head may stop growing. In other areas, where sutures didn’t fuse, your baby’s head will continue to grow. As a result, babies with craniosynostosis often have misshapen heads.

Craniosynostosis can cause increased pressure within the skull. This happens when your baby’s brain continues to grow when there’s no room for it within the skull. Intracranial pressure can limit brain growth and damage brain tissue, which leads to complications. Treatment is available to reduce your baby’s risk of complications.

What are the types of craniosynostosis?

There are different types of craniosynostosis based on where the sutures close:

• Sagittal craniosynostosis affects the suture on the top of the head. Babies with sagittal craniosynostosis have a long, narrow head (scaphocephaly). This causes a broad forehead. It’s the most common type.
• Coronal craniosynostosis affects one of the coronal sutures. This runs from both ears to the top of the head. Babies with this type may have a flat forehead and a broad head.
• Lambdoid craniosynostosis affects the suture along the back of the head. Babies with this type have a flat back of the head (plagiocephaly).
• Metopic craniosynostosis affects the suture that runs from the top of the nose to the top of the forehead. Babies with this type may have a triangular head, with a narrow ridge at the midline of the forehead.

How common is craniosynostosis?

Craniosynostosis isn’t common. It affects about 1 in every 2,500 babies in the United States.

Symptoms of craniosynostosis

The main symptom of craniosynostosis is a misshapen skull. The human head is typically a round shape. This condition can cause areas of your baby’s head to appear:

• Oblong
• Triangular
• Narrow
• Flat

Additional signs may include:

• No fontanelle (soft spot) on your baby’s head
• Small, hard ridge of bone that you can feel on your baby’s head
• Facial features look uneven or asymmetrical
• Head size is smaller than expected for their age (circumference)

Some underlying health conditions can cause craniosynostosis with other symptoms that include:

• Seizures
• Problems with cognitive development
• Low vision or blindness

Craniosynostosis causes

Researchers aren’t sure of the exact cause of craniosynostosis. Sometimes, craniosynostosis occurs because of a random gene change (variation). The gene change can run in your biological family history, but it’s less common.

Providers found the following may contribute to craniosynostosis:

• External pressure on a fetus’s head before birth
• Growth abnormalities of the membranes around the skull and at the base of the skull
• An underlying genetic condition

What conditions cause craniosynostosis?

Craniosynostosis can happen as a symptom of a genetic condition, including:

• Apert syndrome
• Carpenter syndrome
• Crouzon syndrome
• Pfeiffer syndrome
• Saethre-Chotzen syndrome

Craniosynostosis risk factors

Researchers found that the following may increase your risk of having a child with craniosynostosis:

• Thyroid disease: Women undergoing treatment for thyroid disease while pregnant
• Medications: Women taking fertility medication clomiphene citrate before or early during pregnancy

If you’re pregnant or planning on becoming pregnant, talk to a healthcare provider about ways to maintain good health during pregnancy.

Complications of craniosynostosis

Complications of craniosynostosis may include:

• Increased pressure within your baby’s skull
• Developmental delays or intellectual disability
• Breathing difficulties

Some children may struggle with self-esteem and body image if they have facial asymmetry or a different shape to their head compared to their peers. Support groups, counseling and psychotherapy can help your child develop a positive self-image.

How does a doctor diagnose craniosynostosis?

After your baby is born, their healthcare provider will perform a physical exam. They’ll diagnose craniosynostosis by feeling for soft spots on your baby’s head. They’ll look for ridges that signify fused skull sutures. Your baby’s provider will also measure their head circumference. Additional imaging tests, like an X-ray or CT scan, can confirm the diagnosis.

If not diagnosed at birth, your child’s provider may diagnose the condition during well-child visits, as your baby grows. You may notice that the size of your baby’s head isn’t growing at the same pace as the rest of their body, or your child misses developmental milestones for their age.

Let your child’s provider know about any concerns you have at a well-child visit. They’ll perform an exam to diagnose the condition.

How is craniosynostosis treated?

Craniosynostosis treatment varies depending on the type, severity and symptoms that affect your child. These may include:

• Helmet therapy. Babies with mild craniosynostosis may wear a special medical helmet. This helmet gently reshapes their skull over time.
• Surgery. Surgery can reshape your child’s skull, relieve increased intracranial pressure and allow your baby’s brain room to grow and develop. A surgeon will determine the type and timing of the surgery depending on the severity of the condition. Your baby might need surgery within their first year.
• Supportive therapy. Your child may need other supportive therapies, such as physical, occupational and speech therapies, to help them reach developmental milestones for their age.

What are the side effects of craniosynostosis surgery?

Side effects of surgery aren’t common, but may include:

• Air bubbles enter your child’s bloodstream (air embolism)
• Asymmetry
• Bleeding (wound dehiscence), excessive blood loss (requiring blood transfusion)
• Blood clot
• Bone defects or irregularities
• Cerebrospinal fluid leak
• High body temperature (hyperthermia)
• Infection
• Needing a second surgery
• Seizures

While rare, these complications may be life-threatening and could lead to early death.

It can be scary to see your child undergo surgery at such a young age. Know that your baby’s providers have your child’s best interests in mind. Your baby’s care team and surgeons are highly trained and experienced at what they do. They’ll carefully perform the procedure to decrease your baby’s risk of complications.

When should I see a healthcare provider?

Contact a healthcare provider if your child shows signs of craniosynostosis, including:

• A non-round or different-than-expected head shape
• Delayed developmental milestones
• Raised ridges on their head

If your child has craniosynostosis and they have a seizure or experience difficulty breathing, contact 911 or your local emergency services number immediately.

What questions should I ask my healthcare provider?

You might ask your child’s healthcare provider:

• What’s the most likely cause of the craniosynostosis?
• What craniosynostosis treatment do you recommend?
• What are the surgery risks?
• What happens if we decide not to have surgery?
• Does my baby’s head shape affect brain function?
• What is the likelihood that I’ll have another child with the same condition?

Can craniosynostosis be prevented?

There’s no known way to prevent craniosynostosis. Prenatal genetic testing may show gene changes that could lead to this condition. A genetic counselor can help you understand your genetic risks before pregnancy and possible treatment options if your baby is born with this condition.

What’s the outlook for craniosynostosis?

Your child’s outlook (prognosis) varies depending on their overall health and how many sutures in their skull are closed. Most children who receive a timely diagnosis and undergo treatment have a good prognosis. Treatment within your baby’s first year minimizes developmental problems.

Your child’s outlook may be different if craniosynostosis is a symptom of an underlying genetic condition. A healthcare provider can give you the best information about your child’s situation.

What is the life expectancy of someone with craniosynostosis?

Most babies diagnosed with craniosynostosis have a normal life expectancy, especially if their healthcare provider diagnoses and treats the condition within the first few years of life. Each child’s life expectancy can vary based on the severity of the condition.