What is Crouzon syndrome?

Crouzon syndrome is a genetic abnormality characterized by craniosynostosis, bulging eyes, an underdeveloped mid-face, and a beaked nose.

What causes Crouzon syndrome?

Crouzon syndrome occurs in 1 in 10,000 births. It is the most common craniosynostosis syndrome. It can occur sporadically due to new gene mutations, occurring in individuals with no family history of the disorder or may be inherited through an autosomal dominant pattern. This means that only one gene is necessary to express the condition, creating a 50/50 risk for each pregnancy.

What are the symptoms of Crouzon syndrome?

Symptoms of Crouzon syndrome include the following:

  • Craniosynostosis, usually of the lambdoid or coronal sutures
  • An under-developed mid-face causing bulging eyes, sunken cheeks, and dental problems
  • High-arched palate leading to possible speech problems or malocclusion
  • Vision disturbances
  • Recurrent ear infections

Treatment for Crouzon syndrome:

Crouzon syndrome is typically treated with multiple-staged surgery. At one year of age, the craniosynostosis is repaired. The mid-face is corrected at 5-7 years of age.

An individual with Crouzon syndrome is followed closely by a number of healthcare professionals including an ophthalmologist, ENT, physical and occupational therapists, speech therapists, nutritionists, dentists, and orthodontists in order to address other symptomatology.

Individuals with Crouzon syndrome typically have normal intelligence though some intellectual disability may be present. Life expectancy is normal.