Crouzon Syndrome

What Is Crouzon Syndrome?

Crouzon syndrome is a rare genetic disorder that affects about one in 50,000 babies. Children born with Crouzon syndrome will have abnormalities of the bones of the skull and face. Another name for Crouzon syndrome is acrocephalosyndactyly.


What Causes Crouzon Syndrome?

Crouzon is caused by changes in a baby's genes. These changes may be inherited from a parent or may happen for unknown reasons. The same gene changes that cause Crouzon also cause several other syndromes, including Pfeiffer, Apert, and Muenke syndromes.

Crouzon syndrome is a type of craniosynostosis, a condition in which the sutures, or seams, that join the pieces of a baby's skull together close before they should.

Who's at Risk for Crouzon Syndrome?

Crouzon syndrome is a genetic condition that may occur due to random genetic changes with no known cause. Children also can inherit a gene mutation for Crouzon syndrome from a parent who has the diagnosis.

Only one parent needs to carry the gene to pass it on to their child. Each child born to a parent with the syndrome has a 50 percent chance of inheriting it.

Some experts believe that male babies may be affected more often than females.

Crouzon Syndrome Risk Factors and Complications

Having a family member with Crouzon syndrome is a known risk factor for being affected. Children born to older fathers may be at an increased risk.

Because Crouzon syndrome can affect each child differently, complications will also differ.

For example, a child with craniosynostosis may have problems with skull and brain growth as well as vision problems. If there are problems with the bones of the face and jaws, the child may have breathing and feeding problems.

Some children may have other bones that fuse including the wrist or spine, which can impair growth.

If Crouzon is left untreated, it can lead to serious complications, including:

  • Increased pressure on the brain.
  • A buildup of spinal fluid in the brain called hydrocephalus.
  • Hearing impairment.
  • Vision loss.
  • Breathing problems.
  • Developmental delays.
  • Brain damage.

Symptoms & Diagnosis

Diagnosing Crouzon Syndrome

Your child's doctor may suspect Crouzon at birth, usually due to the appearance of specific facial features. In more mild cases, the facial features may not be noticeable for several months. The condition isn't usually diagnosed before birth.

If your child's doctor suspects your child might have Crouzon, they'll conduct the following tests to confirm the diagnosis:

  • Imaging of the head, with an x-ray, a CT Scan, or an MRI.
  • Blood tests.

Crouzon Syndrome Symptoms

Children with Crouzon have a certain set of facial features that usually leads their doctor to suspect the diagnosis. These features might be barely noticeable or more severe, and include some or all of the following:

  • Eyes that are farther apart than usual.
  • Eyes that seem too shallow or that bulge.
  • Eyes that don't look in the same direction or don't close completely.
  • An unusually small nose.
  • A small upper jaw.
  • A cleft lip or cleft palate.


Crouzon Syndrome Treatment

Patients with Crouzon syndrome will require many different types of treatment throughout their childhood. Because some problems are more serious than others, your team will focus on those first.

This includes making sure that your child's breathing is normal, their eyes are healthy and their brain is safe and developing normally.

Because every child's case is slightly different, a team of specialists will work with you and your child to find out which treatment options are best for them.

Surgical Treatments for Crouzon Syndrome

Based on your child's condition and needs, your team may suggest the following treatments:

  • Surgery for craniosynostosis (such as craniectomy, posterior vault distraction, or cranial vault remodeling).
  • Treatments or surgery to help breathing problems (including supplemental oxygen, CPAP, tonsillectomy/adenoidectomy, tracheostomy).
  • Surgery to fix bones in the face that are too small or out of place.
  • Hydrocephalus treatment to treat extra fluid around the brain.
  • Cleft lip and/or palate surgery.
  • Surgery to correct problems with internal organs.

Crouzon Syndrome Prognosis

Children with Crouzon have a good prognosis. With early treatment and supportive care, most children with Crouzon won't have long-term problems.

Why Choose UPMC Children's Hospital for Crouzon Syndrome?

UPMC Children's Hospital of Pittsburgh draws on 50 years of experience to treat over 3,000 children each year. Our reputation of excellence in patient care earned us consistently high rankings on the U.S. News & World Report Best Children's Hospitals listings. Parents who trust their child's care to UPMC Children's Hospital can rest assured that their child will receive the high-quality services they need.

Our experts come from various disciplines and have the training required for caring for children with complex craniofacial conditions.

We'll tailor a treatment plan based on your child's needs. We consider all aspects of your child's health including their brain and skull and eyes, airway and feeding, and self-image.

We work with other specialists to make sure your child gets the right care at the right time.

Our goal is to achieve optimal appearance, speech, hearing, and brain psychosocial development at the earliest possible age.

Meet our team at Cleft-Craniofacial Center and learn about our treatment options. Or contact UPMC Children's Hospital of Pittsburgh at 412-692-5325.

Contact Us

Meet our team at UPMC Children's Hospital of Pittsburgh's Cleft-Craniofacial Center and learn about our treatment options, or contact UPMC Children's Hospital of Pittsburgh at 412-692-8650.