Crouzon Syndrome is a deformity that occurs when some of the bones of the skull fuse, or close, early. This abnormal fusion affects the skull, the eyes, and the jaws. It may be inherited as a genetic trait or it may arise as a new condition in the family. It is inherited as an autosomal dominant condition, meaning there is a 50% chance of passing it to your children.
Although the severity of the condition varies from patient to patient there are some consistent features. Patients with crouzon syndrome typically have a wide head (brachycephaly), a flat forehead, shallow eye sockets, prominent eyes, and a flat midface.
Patients with Crouzon Syndrome should be evaluated through a craniofacial center, with a team of providers that have experience working with rare disorders. These teams are usually composed of a craniofacial surgeon, neurosurgeon, psychologist, dentist, nurse, speech therapist, audiologist, ENT, oral & maxillofacial surgeon, ophthalmologist, orthodontist, geneticist, and social worker.
A comprehensive examination will be needed. Diagnostic studies that may be needed include CT scan, dental impressions, dental xrays, facial measurements, sleep study, eye examination, hearing test, and nasoendoscopic evaluation, and possibly psychological and developmental screenings. The craniofacial team will review results and come up with a treatment plan that will include phases of care for infancy, childhood, and adolescence. All treatment is typically completed during teenage years.
There are various acceptable treatment protocols that are in use at different craniofacial centers. Most patients with crouzon syndrome will need cranial vault reconstruction as an infant, to expand the skull and improve the shape. Orbital and forehead surgery can be finalized between ages 5 and 7. Jaw reconstruction is preferably delayed until the teenage years. On occasion ear tubes are necessary to assist with ear fluid drainage. These procedures are coordinated with child growth and development to maximize results and minimize risks.
Most patients with Crouzon Syndrome are otherwise normal, and can attend regular schools and colleges. But even after surgical correction, they will have physical characteristics that are common for their syndrome. Conversations about facial differences, and acceptable social interactions regarding teasing and bullying are important to have as a family, and possibly with a therapist. This can maximize self esteem, and decrease risks of depression. Surgery is no substitute for thoughtful upbringing and intelligent conversation, so that everyone has realistic expectations regarding outcomes.
All surgeries carry risks of complications. But the greatest risk is that which comes with unrealistic expectations. Patients with craniofacial differences are at high risk for depression and PTSD. It is important to discuss thoroughly with your surgeon and team the reasons for the proposed surgery, the anticipated gains as well as possible risks. Only then can you make an educated decision about whether you should proceed with surgery. Most people don’t realize, but almost all surgeries for Crouzon Syndrome are elective. So, think hard, ask lots of questions, and involve your family.
Here are some questions you should ask your provider:
Am I being treated by an ACPA recognized craniofacial center?
How many patients like me/ my loved one are treated here?
Is my surgeon thoughtful/ approachable/ easy to contact with questions?
Will my surgeon be doing the operation, or one of their students?
What are the risks of this operation?
What are the benefits of this operation?
What if I decide not to have surgery? What will happen?
What if I have a problem after hours? Who will be there for me?