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Crouzon syndrome is a genetic condition that results in an abnormal fusion of some of the bones of the skull and face that does not allow the bones to grow normally, affecting the shape of the head, the appearance of the face and the relationship of the teeth.
Crouzon syndrome differs from most other craniosynostosis syndromes because it does not involve abnormalities of the hands and feet. However, cervical spine abnormalities are fairly common, and a smaller percentage of patients may have subtle elbow, hand, musculoskeletal or internal organ anomalies.
Patients can be seen by Texas Children's experts in Plastic Surgery, Neurosurgery, Orthodontics, and Pediatric Dentistry.
Causes and Risk Factors
Crouzon syndrome is a rare genetic disorder estimated to occur in 1.6 per 100,000 people. About 4.5% of people with craniosynostosis have Crouzon syndrome.
The cause of Crouzon syndrome is a genetic change or mutation in one of the fibroblast growth factor receptor (FGFR) genes — FGFR2 on chromosome 10 and FGFR3 on chromosome 4.
Some people inherit the Crouzon syndrome gene mutation from a parent. Only one parent needs to have an abnormal gene for the child to inherit the disease. A person with Crouzon syndrome has a 50% chance for each pregnancy of passing this mutation on to the child.
For other people with no one else in the family having a diagnosis of Crouzon syndrome, the condition occurs because of a spontaneous change in FGFR2, the gene that causes Crouzon syndrome.
Symptoms and Types
Crouzon syndrome is a genetic birth disorder characterized by the premature joining of certain bones of the skull during development, which affects the shape of the head and face.
Most children with Crouzon syndrome are of normal intelligence.
Common features of this syndrome include:
- wide-set, bulging eyes
- crossed eyes (strabismus)
- beaked nose
- underdeveloped upper jaw
- protruding lower jaw
- overcrowding of teeth
- high-arched palate
Diagnosis and Tests
Diagnosis starts with a detailed medical history and a physical exam.
Additional testing such as blood tests and imaging studies are conducted based on each individual child’s presentation.
Treatment and Care
Treatment depends on the individual patient and the severity of the symptoms.
In the Texas Children’s Hospital Craniofacial Program, we approach Crouzon Syndrome with a multidisciplinary team of expert surgeons and specialists in (but not limited to):
- Pediatric craniofacial surgeon (plastic surgeon with fellowship training in craniofacial surgery)
- Pediatric neurosurgeon
- Ear, nose and throat specialist
- Pediatric ICU specialists
- Difficult airway team
- Ophthalmologist
- Craniofacial orthodontist (fellowship trained in craniofacial care)
Surgery takes place in multiple stages and may begin by addressing the Craniosynostosis to prevent the closure of gaps between the skull bones. It is important to keep these gaps from fusing together, as premature fusion can cause brain damage or result in underdevelopment. We specialize in all techniques required for the treatment of Complex Craniofacial Syndromes.
Your child with Crouzon will not require all these procedures, but we will discuss with you how our treatment is tailored to their specific needs. Our team has one of the largest single surgeon series of sub-cranial midface distraction procedures (Le Fort 3 Midface Distraction Advancement) with a safe track record and optimal results.
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