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 talland 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
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.
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.
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.⌖ diseases treatments syndromes disorders health crouzon-syndrome