About Crouzon Syndrome
Crouzon syndrome is a rare genetic disorder characterized by craniosynostosis, the premature closing of the sutures in a baby’s skull. This development occurs while the baby is still in the womb, preventing the skull from growing normally and causing facial deformities. In addition to facial abnormalities, children with Crouzon syndrome may experience developmental delays, but most children are of normal intelligence.
Each week, one in 70,000 infants born in the United States is diagnosed with Crouzon syndrome. In many cases, physicians can tell if a child exhibits symptoms of the condition at birth or in the months following. Treating Crouzon syndrome early in a baby’s life is critical to normal development in infancy and childhood.
Causes and Genetics
Crouzon syndrome is caused by a mutation of the fibroblast growth factor receptor 2 (FGFR2) gene. This gene is responsible for a protein that promotes skeletal development early on in pregnancy. When the gene mutates, it causes a premature closing of the sutures in a baby’s skull.
A genetic condition, Crouzon syndrome is inherited through the child’s parents in an autosomal dominant pattern. This means that only one parent needs to possess the altered gene to pass it on. In many cases, the baby’s parents will exhibit no signs of Crouzon syndrome.
Symptoms and Complications
It’s important to remember that each patient is unique, and Crouzon syndrome affects everyone differently. Some patients present with overt characteristics, while others may have more subtle symptoms.
- Craniosynostosis: An abnormal head shape caused by premature fusing of the skull bones.
- Facial Features: Protruding eyes, beaked nose, and an underdeveloped jaw.
- Dental Issues: Misaligned teeth, late tooth growth, and potential bite problems.
- Hearing and Vision Problems: Structure abnormalities with the eyes and ear canal can impact the child’s ability to hear and see properly.
Diagnosis
Due to the noticeable physical characteristics associated with Crouzon syndrome, pediatricians often detect symptoms at birth or in the following months. If a diagnosis is suspected, a craniofacial specialist will conduct a clinical evaluation based on physical characteristics and other symptoms. This will include asking questions about the family’s health history. The doctor may also order X-rays, CT scans, or MRIs to confirm whether cranial and facial bone fusion has occurred. Genetic testing is available to confirm the diagnosis. This is accomplished through a quick blood draw and looks for mutations in the FGFR2 gene.
Treatment and Management
While a diagnosis of Crouzon syndrome can be scary, modern treatments have proven highly successful in helping manage its symptoms. At Rady Children’s, our specialists emphasize a multidisciplinary approach to treating the condition, including coordination between craniofacial, neurosurgical, and oral surgeons, physical and occupational therapists, nutritionists, speech pathologists, and social workers.
Depending on the severity of Crouzon syndrome, the following modalities may be used:
- Surgical interventions to treat craniosynostosis and facial deformities. These procedures correct the shape of the skull and fix jaw alignment and eye issues. While surgery is common for Crouzon syndrome, not every child with the condition will need these procedures.
- Orthodontic treatments may be used to correct dental issues, such as irregular tooth development and bite problems. These symptoms will become apparent as the child develops teeth during the first year of birth.
- Physical therapy is extremely important following any corrective surgery. Even if your child is very young, their physician will likely schedule rehabilitative care to encourage proper mobility and function.
- Occupational and speech therapy will be prescribed to address any lingering physical, sensory, or cognitive problems. This is especially important if your child is experiencing motor and physical development challenges.
Long-term health monitoring is essential for children with Crouzon syndrome. Following diagnosis and treatment, your pediatrician will set up regular check-ups and testing to ensure that surgeries, rehabilitative care, and occupational therapies are proceeding normally.
Living with Crouzon Syndrome
At Rady Children’s, we recognize that caring for a child with Crouzon syndrome is a team effort. Beyond medical interventions, our team offers extensive resources and programs to ensure your family feels confident and prepared.
These include:
- Family Support and Resources: Access to parent-to-parent support groups, developmental specialists and social workers, and other services focused on family-supported care.
- Educational Support: Specialized programs to address learning and developmental needs. Our team members work closely with educators to provide extra support and help in school, at home, and in other settings.
- Community and Advocacy: Our team members will help your family to connect with groups providing support and advocacy efforts. myFace is a non-profit organization working diligently to provide resources and community to people with craniofacial conditions while advocating for the best medical care possible.
Contact Us
Because of the associated physical issues, many cases of Crouzon syndrome will be detected by pediatricians following childbirth and in the months after. But if you suspect something is wrong, don’t wait. Early intervention is essential to correcting physical or developmental issues while setting your child and family up for short and long-term success.
If your child is diagnosed with Crouzon syndrome, it’s important to remember that you’re not alone. Our team at Rady Children’s is here to help your family manage this condition and any surgeries or other modalities your child may receive to help promote healthy development. We want you to feel supported, cared for, and hopeful for the future.