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.

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.

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.

Crouzon syndrome is usually diagnosed at birth, based on the appearance of your child’s face and skull. Our expert craniofacial team will confirm a diagnosis of this condition and help you make decisions about your child’s care. We are here to support you every step of the way.

At Boston Children’s Hospital, a trained craniofacial surgeon and geneticist can confirm a diagnosis of Crouzon syndrome. They will evaluate your baby and may order an X-ray and/or a computed tomography (CT) scan to confirm the diagnosis. Genetic testing may also be done using a sample of blood or saliva.

Treatment of Crouzon syndrome usually involves experts from many specialty areas. At Boston Children’s Hospital, our dedicated team of specialists will provide your child with the broad range of treatment and follow-up care that this rare and complex condition requires.

Depending on the severity of the disorder, your child may require surgeries to:

• Re-shape the skull
• Properly align the jaw
• Correct eye problems

While the prospect of multiple operations over your child’s lifetime can seem overwhelming, it’s important to remember that these procedures are very successful.

Our advanced treatments for Crouzon syndrome

Boston Children’s Hospital provides the most advanced treatments available for Crouzon syndrome and other craniofacial anomalies, including:

Minimally invasive skull repair: For many patients, our doctors can release bands of tissue that connect the bones of the skull (called sutures) through several small incisions — instead of traditional open surgery. Offered during the first few months of a child’s life, this procedure helps to correct the shape of the skull and provides room for the brain to grow. After this procedure, your child will be fitted with a special, temporary helmet to correct the shape of the skull.

Fronto-orbital advancement or calvarial vault remodeling: If minimally invasive (endoscopic) treatment is not an option for your child, surgery to correct the skull can be provided when your child is between 9 and 11 months of age. Our world-renowned plastic surgeons and neurosurgeons will work together to release the fused sutures and reshape the skull. They will use a zigzag incision technique, which helps camouflage the scar and makes the incision less visible.

Le Fort advancements: These upper jaw surgeries correct abnormalities of the maxilla (upper jaw), including the way the teeth align. They involve sectioning (cutting) and repositioning the upper jaw to correct its abnormal position. Our advanced, three-dimensional imaging technology enables our surgeons to create a precise surgical plan for your child.

Distraction osteogenesis: A procedure that moves two segments of a bone slowly apart so that new bone fills in the gap. During this procedure, a surgeon makes a break (called an osteotomy) in the abnormal bone and attaches a device known as a distractor to both sides of the osteotomy. This distractor is gradually adjusted over a period of days to stretch the gap and enable new tissue to fill it in. This procedure often follows a Le Fort advancement procedure.

Airway treatments: If your child is born with a blocked airway as a result of this condition, our otolaryngology, sleep medicine, and/or pulmonary specialists will provide an expert diagnosis and an immediate plan for treatment. At Boston Children’s Hospital, airway obstructions can be treated in many ways. Our world-renowned surgeons offer the most advanced treatments available. These options include:

• Wearing a continuous positive airway pressure (CPAP) mask
• Tonsillectomy and/or adenoidectomy
• Midfacial advancement (also called a “Le Fort III”)
• In severe cases, placement of a tracheostomy (a surgical procedure creating an opening through the neck into the windpipe) may be needed until your child is old enough to undergo other operations.

Dental treatments: The abnormal shape of the face can also affect the position of the teeth and the occlusion. Many children have an under bite, as well as misaligned teeth. Delayed tooth eruption is also common for children with Crouzon syndrome. Your child should visit a pediatric dentist when the teeth start to come in — no later than 2 to 3 years of age.

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 among the top children's hospital in many specialties.
• 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.
• 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. Read about our craniofacial research.

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

For families residing outside of the United States, please call Boston Children's Global Services at +1-617-355-5209.