Crouzon syndrome, also known as craniofacial dysotosis, is the most common type of genetic syndromic craniosynostosis, a condition characterized by the premature fusion of sutures in a baby’s skull. Scientists believe that Crouzon syndrome is caused by a mutation in one of the four genes that make up the fibroblast growth factor receptor (FGFR) gene family.
Symptoms
Crouzon syndrome, because it is a form of craniosynostosis, can be identified by an abnormal head and face shape with increased vertical height. Crouzon syndrome is also characterized by midface hypoplasia, or decreased growth of the midface. This causes a crescent moon or sunken facial appearance with a depressed nasal bridge and beak nose. Decreased growth of the central face can contribute to obstructive sleep apnea and airway concerns.
Other common characteristics include:
- Large forehead
- Shallow eye sockets causing prominent eyes
- Narrow palate with or without a cleft
- Fused bones of the arms, elbows and hips
- Hearing loss
Crouzon syndrome presents many of the same symptoms as Apert syndrome, including airway compromise, sleep apnea, fluid build-up in the brain, and eye exposure issues. However, the characteristic feature that distinguishes Crouzon syndrome from other types of syndromic craniosynostosis is the absence of hand anomalies, which are common with Apert syndrome.
Diagnosis
Crouzon syndrome is usually diagnosed at birth or during infancy through clinical evaluation, identification of physical anomalies, and a variety of specialized tests. Testing may include advanced imaging techniques, such as computerized tomography (CT) scanning, magnetic resonance imaging (MRI), or other imaging studies. Molecular genetic testing, to detect mutations in the FGFR gene linked to the disorder, can confirm a diagnosis of Crouzon syndrome in some people.
Treatment
The treatment of Crouzon syndrome is dependent upon both functional and appearance-related needs and should be addressed immediately after your child is born. Your child should be treated at a medical center that includes pediatric specialists across the many clinical areas your child may need. Our North Carolina Cleft and Craniofacial Center team specializes in a holistic approach managed by an interdisciplinary team and access to the Brenner Children’s Hospital throughout treatment.
The timing and course of surgical treatment is highly individualized. Our surgeons, with expertise in pediatric plastic and reconstructive surgery, treat each patient based on their unique symptoms and needs.
Surgery to separate sutures in the skull is the main form of treatment for Crouzon syndrome. Creating the space required within the skull for the developing brain to grow relieves intracranial pressure and improves the appearance of the child’s head.
