Crouzon Syndrome

Crouzon syndrome, also known as craniofacial dysostosis, is a complex genetic birth disorder that may affect a child’s face, skull, and teeth. In a child with this syndrome, premature fusion of certain skull bones (craniosynostosis) prevents the skull from growing normally and affects the shape of the head and face; sometimes causing increased pressure around the brain.

Crouzon syndrome occurs in one out of 61,000 newborns.

The Craniofacial Program at Boston Children's Hospital provides a team approach to the evaluation, diagnosis, and treatment of children with this condition. Our experts work together to care for all your child’s needs, from diagnosis and counseling through treatment and follow-up.

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.

Why choose Boston Children’s Hospital for Crouzon syndrome care

Our extensive experience and commitment to innovative and compassionate care have established us as a national leader in treating children with conditions such as Crouzon syndrome.

Families seeking the very best care for their child come to our Craniofacial Program at Boston Children’s for our:

  • Nationally recognized care: U.S. News & World Report ranks Boston Children's Hospital higher in more specialties — including neurosurgery — than any other children's hospital in the country.
  • Experience in craniofacial anomalies: We care for more than 500 patients every year with a range of craniofacial conditions, a high volume among the country’s top programs.
  • Surgical expertise: Our plastic surgeons and neurosurgeons are world renowned for their advanced surgical techniques and precision in treating this complex craniofacial anomaly. Learn more about Crouzon syndrome treatment.
  • Team approach: Crouzon syndrome may affect a child’s hearing, vision, breathing, speech, and dental functions. At Boston Children’s Hospital, our dedicated and knowledgeable team of specialists from several disciplines provides you and your child customized and collaborative care. Meet our craniofacial team.
  • Research and innovation: Our clinicians are involved in research that moves us closer to a better understanding of — and treatment for — all deformities of the head and face. Learn more about our craniofacial research.