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Crouzon syndrome, also known as craniofacial dysostosis, is a condition characterized by abnormalities of the skull and midface. Patients with Crouzon syndrome may also have hearing loss or cleft palate. Individuals with Crouzon syndrome with acanthosis nigricans may develop dark velvety skin changes on the neck and armpits.
Crouzon syndrome is a rare congenital condition that occurs in 1 of 25,000 newborn babies in a 1:1 male to female ratio. It may be inherited in an autosomal dominant fashion from a parent with Crouzon syndrome, or be due to a fresh genetic mutation in the fibroblast growth factor receptor 2 gene (FGFR2) or, less frequently, the FGFR3 gene. A parent with Crouzon syndrome has a 50% chance of passing the condition to a child.
The skull may be affected by craniosynostosis, or premature fusion of sutures in the skull. The paired coronal sutures are typically involved, but the sagittal, metopic or lambdoid sutures may be affected. Abnormality of head shape may be present at birth, or develop over time. The appearance is one of a tall and short (from front to back) head. This is known as turribrachycephaly. Variable involvement of the cranial base and midface sutures may result in flattening or retrusion of the midface. As a result, the eyes may bulge out and the child may develop an underbite and an open bite.
The manifestations of Crouzon syndrome are typically less severe than in Apert Syndrome. There is no involvement of the hands and feet. Conductive hearing loss and cervical spine abnormalities are common findings in children with Crouzon syndrome. Hydrocephalus may occur in 10-30% of patients with this diagnosis. Patients with Crouzon syndrome may develop a Chiari malformation. Elevated intracranial pressure and craniosynostosis may occur in older children, therefore, monitoring for severe headaches, vomiting, vision changes and neurodevelopmental decline is undertaken.
Examination of your child's skull, face and body will help guide your child's doctor at Children's Hospital Colorado towards a correct diagnosis. You will be seen by a geneticist to test whether your child has the genetic mutation that causes Crouzon syndrome. A CT scan and/or an MRI will be used to diagnose the changes in the skull that are associated with Crouzon syndrome.
Before providing families with Crouzon syndrome treatment options, a thorough evaluation by the Craniofacial Team will be undertaken. Your child may also see specialists in consultation to better diagnose and treat his or her particular condition(s). Together we will create a comprehensive treatment plan for your child.
The main concerns in the early Crouzon syndrome treatment planning for children with Crouzon syndrome have to do with the brain, vision and breathing.
The premature fusion of multiple sutures in the skull may cause restriction on the growing brain. This constriction can cause increased intracranial pressure. In order to release the pressure, surgery on the skull may need to be undertaken within the first year. This may be in the form of cranial remodeling or distraction osteogenesis, depending on the specific needs of the child.
Surgeries to protect the eyes may be needed. These may include tarsorraphy of the lids or fronto-orbital advancement of the bones of the forehead and upper eyes.
Some children with difficulty breathing will require a tracheostomy. As the child grows, it may be necessary to perform a LeFort III or Monobloc in order to improve the form and function of the face. These procedures can positively affect the ability to protect the eyes and breathe while sleeping. The timing of these surgeries, if needed, is dictated by the severity of your child's symptoms. In late adolescence, the child may require orthognathic surgery to improve facial balance and his or her bite.
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