Symptoms & Causes of Crouzon Syndrome

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What are the Symptoms of Crouzon Syndrome?

The clinical features of Crouzon syndrome may include:

  • A skull that appears “too tall” and overly flat from the middle part of the face upward
  • Small cheeks and a concave (curved inward) facial profile
  • A prominent nasal bridge (a “beaked” nose)
  • Wide-set, bulging eyes
  • Crossed eyes (strabismus)
  • Underdeveloped upper jaw
  • Protruding lower jaw
  • Overcrowded teeth

These facial abnormalities are a result of the following:

  • Craniosynostosis: Premature (early) closure of growth plates of the skull that changes the shape of the head and can put increased pressure on the brain. This makes skulls appear “too tall” and overly flat from the middle part of their faces upward.
  • Midfacial hypoplasia: Decreased growth of the middle of the face, causing a sunken facial appearance. This can also cause potential airway obstruction, sleep apnea and a concave facial profile.

In addition to these physical characteristics, your child may have:

  • Dental problems due to crowded teeth and a narrow palate
  • Poor vision
  • Ear conditions and hearing loss (in about 50 percent of children)
  • Difficulty breathing due to small airway
  • Buildup of excess fluid in the brain (hydrocephalus)

Some children with Crouzon syndrome may have developmental delays. However, most children with Crouzon are of normal intelligence. Our craniofacial neuropsychologist will help evaluate your child and recommend any developmental or cognitive interventions that might also be beneficial.

What Causes Crouzon Syndrome?

A specific mutation (change) in a gene called fibroblast growth factor receptor 2 causes Crouzon syndrome. This gene is also involved in other craniofacial syndromes such as Pfeiffer syndrome and Apert syndrome.

Experts do not understand the exact cause of these gene mutations.

Most parents who have a baby with Crouzon syndrome have normal genes. However, children with Crouzon syndrome can pass the gene on to their children. A parent with Crouzon syndrome has a 50 percent chance of having a baby that also has Crouzon syndrome.

If you have Crouzon syndrome and wish to have children, our geneticist can meet with you to discuss the risks and help you make a thoughtful, informed decision.

Make an Appointment

For an appointment with the Cleft and Craniofacial Center, more information or to obtain a second opinion for your child, please call us at 617-355-6309 or email our program coordinator, samantha.hall@childrens.harvard.edu.

International Patients

For families residing outside of the United States, please call Boston Children's International Health Services at +01-617-355-5209.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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