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.

Causes of 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.

Symptoms of Crouzon Syndrome #

• 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

Diagnosis of Crouzon Syndrome #

• 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 #

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.