Crouzon syndrome

What is Crouzon syndrome?

Crouzon (kroo-ZAHN) syndrome is a condition a baby has at birth that can cause abnormalities in the bones of the head and face, and sometimes in several other areas of the body. It affects about 1 in 60,000 babies.

The main symptoms of Crouzon syndrome are:

• Misshaped skull: craniosynostosis, with two or more skull bones fused prematurely. Commonly, the two bones on top of the baby’s head close to the face are affected (where a headband would go), although others may also be involved.
• Smaller than normal bones in the face, called midface hypoplasia (high-puh-PLAY-zhee-uh).

Crouzon syndrome is one of several types of syndromic craniosynostosis. It has many things in common with the other types. Some of these syndromes include wide-set and bulging eyes with a downward slant. A baby with Crouzon syndrome may also have an underdeveloped jaw and a curved nose. They may have a bulging forehead and a short upper lip.

Because the types of syndromes share many of the same symptoms, doctors have to determine which one the baby has. A key difference for babies with Crouzon syndrome is having normal fingers and toes. In two other similar syndromes, Apert syndrome and Pfeiffer syndrome, the baby’s fingers can have abnormal shapes.

Symptoms of Crouzon syndrome can range in severity and in how many areas of the body are affected. In addition to the abnormal bones of the head and face, other symptoms can include:

• Extra fluid in the brain
• Elevated pressure in the brain (Untreated, this can lead to neurodevelopmental issues.)
• Eye and vision problems
• Breathing and sleeping difficulties
• Difficulty feeding
• Hearing problems
• Dental abnormalities
• Cleft lip/palate
• Abnormal brain structures
• Spine abnormalities
• Stiffness in the elbows

A very small percentage of babies with Crouzon syndrome also have a skin condition called acanthosis nigricans. This causes patches of dark, thick, velvet-like skin to grow in places on the body where there are folds and creases, such as the armpits, neck, behind the knees and groin. It affects females more than males.

What causes Crouzon syndrome?

A disease-causing change in a specific gene, called the FGFR2 gene, causes Crouzon syndrome. About half of people with Crouzon syndrome inherited the condition from one of their parents.

For the other half, the genetic change happened brand new for that person while the baby was developing in the womb. In some of these cases, the genetic change seems to be more common when the baby’s father is older.

Everyone who has the abnormal gene will have some symptoms of Crouzon syndrome. But symptoms can range from very mild to severe, even between siblings in the same family.

If a baby inherits the abnormal gene that causes Crouzon syndrome from a parent, the chances of future siblings also having Crouzon is 50%. If neither parent has the syndrome, the likelihood of future children also having Crouzon syndrome is very low.

How is Crouzon syndrome diagnosed?

If there is a family history of Crouzon syndrome, diagnosis is typically clear based on a physical examination. But even without a family history of the syndrome, most people are diagnosed when they are babies. Doctors usually order certain tests, including genetic tests, MRI and CT scans, when a baby has a misshaped skull. The test results can verify the diagnosis of Crouzon syndrome and reveal which bones in the skull are fused together. They may also show if there are additional abnormalities in the baby’s head or face.

In very mild cases of the syndrome, symptoms may not be noticeable at first. The symptoms can worsen until a child is two or three years old.

Treatment for Crouzon syndrome

Because many different areas of the body can be affected, a team of pediatric specialists should handle the care of babies with Crouzon syndrome. Treatment for each child will focus on their specific symptoms.

For babies with severe symptoms, including craniosynostosis, surgery is the treatment, and it’s important to do it early. Without surgery, the baby’s brain will not have room to grow, and this can cause problems. Surgery may also be needed to:

• Prevent eye problems
• Relieve an airway obstruction
• Repair a cleft lip/palate
• Correct an abnormally shaped jaw
• Straighten teeth

Some children with Crouzon syndrome may also need hearing aids and speech therapy.

Genetic counseling is recommended for families. It’s important to understand what possible risks there might be for future children, and the family can learn about the genetic cause of Crouzon syndrome.

Pediatric craniofacial plastic surgeons perform surgery for craniosynostosis and other surgeries of the head and face. Other pediatric specialists are needed to care for abnormalities in other parts of the body.

Members of the care team may include:

• Craniofacial plastic surgeons
• Pediatricians
• Neurosurgeons
• Ophthalmologists (pediatric and oculoplastics)
• Dentists
• Oral and maxillofacial surgeons
• Physical, occupational and speech therapists
• Otolaryngologists
• Medical geneticists/genetic counselors
• Audiologists
• Social workers

Working together, these specialists monitor children with Crouzon syndrome throughout childhood. They address symptoms and make sure children are developing to their full potential.

Long-term outlook for Crouzon syndrome

Because symptoms of Crouzon syndrome can range so widely, a child’s long-term outlook can depend on many things.

• Babies who have surgery to treat craniosynostosis before age 1 do better. This is because their brains have room to grow normally. Corrective surgery can also help with breathing and vision.
• There is a greater risk for vision problems, so children with Crouzon syndrome will need to be diligent about eye checkups and care.
• Individuals with Crouzon syndrome usually, but not always, have normal intelligence.
• With early treatment and good supportive care as they grow, children with Crouzon syndrome can manage symptoms and have a full life.
• As adults, when they are ready to start their own families, people who were born with Crouzon syndrome should have genetic counseling. This will help them find out how likely it is that their own children will be born with the condition.

Get help at Children’s of Mississippi

The craniofacial team at Children’s of Mississippi is experienced in all aspects of care for children with Crouzon syndrome. We have all the pediatric specialists needed to manage the range of symptoms that can be a part of this diagnosis. You can request a consultation with our pediatric craniofacial surgeons. They will be happy to answer your questions and help you understand your options. Schedule an appointment online.

Last reviewed: March 9, 2026