Craniofacial dysostosis

Craniofacial dysostosis, also known as Crouzon syndrome, is a rare genetic disorder characterized by the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Causes

Craniofacial dysostosis is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms

The symptoms of craniofacial dysostosis can vary greatly among individuals. Some common symptoms include:

• Proptosis (bulging eyes)
• Strabismus (misalignment of the eyes)
• Hearing loss
• Breathing difficulties
• Sleep apnea
• Cleft palate
• Learning disabilities

Diagnosis

Diagnosis of craniofacial dysostosis is typically made based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include advanced imaging techniques, such as computed tomography (CT) scan or magnetic resonance imaging (MRI).

Treatment

Treatment for craniofacial dysostosis is symptomatic and supportive. It may include surgery to correct skull shape and relieve pressure on the brain and the cranial nerves. Other treatments may include speech therapy, hearing aids, and special education services for those with learning disabilities.

See also

• Genetic disorder
• Craniosynostosis
• Apert syndrome
• Pfeiffer syndrome

Craniofacial dysostosis Resources
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