Crouzon Syndrome
What is Crouzon Syndrome?
Crouzon syndrome is a genetic disorder marked by the premature fusion of certain skull bones (craniosynostosis). It is the most common form of craniosynostosis. Premature fusion of the skull bones prevents the skull from growing normally and affects the shape of the child’s head and face. This can result in wide-set, bulging eyes and vision problems caused by shallow eye sockets. Other signs include eyes that do not point in the same direction (strabismus), a beaked nose and an underdeveloped upper jaw. Children with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few have an opening in the lip and the roof of the mouth (cleft lip and palate). Other potential complications include airway obstruction, cervical spine anomalies and complications related to the eye. Occasionally, patients may experience frequent headaches or seizures. Most individuals with Crouzon syndrome are of normal intelligence; however, varying degrees of mental deficiency have been observed. The severity of these symptoms varies. What causes Crouzon syndrome?The vast majority of cases of Crouzon syndrome are caused by genetic mutations – specifically in a gene called FGRF2 –“fibroblast growth factor receptor 2” – on chromosome 10. Less commonly, the cause is a mutation in FGRF3 on chromosome 4. Crouzon syndrome is inherited in an autosomal dominant pattern – one copy of the altered gene is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. However, most cases result from a new mutation and occur in people with no family history of the disorder. In families where the parents are apparently unaffected, the recurrence risk for their future offspring is considered low. Prenatal ultrasound may miss cases of Crouzon syndrome. For families in which a gene mutation is identified, prenatal diagnostic testing is a possibility. How is Crouzon syndrome treated?In the Division of Plastic and Maxillofacial Surgery, we approach Crouzon syndrome much as we do Apert syndrome, with an interdisciplinary team of expert surgeons and specialists in craniofacial surgery, neurosurgery, oral surgery, orthodontia and ophthalmology, among others. Surgery takes place in multiple stages and may begin by addressing the craniosynostosis to prevent the closure of cranial sutures (connections between bones of the skull). It is important to keep these sutures from fusing, which can damage brain development. In addition, extensive facial and orthodontic surgery typically are required. For more information, contact our Craniosynostosis Center & Craniofacial & Cleft Center. Before and After Pictures
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