Crouzon Syndrome Disease

About Gene:

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. It has a prevalence of 1 in 25,000 live births and it constitutes 4.8% of all craniosynostosis.

Number of Patients: 1

Disease Causing Genes:

Sign and Symptoms:

  1. skull appears “too tall” and overly flat from the middle part of the face upward
  2. small cheeks and a concave facial profile
  3. a prominent nasal bridge (a “beaked” nose)
  4. bulging eyes
  5. crossed eyes
  6. underdeveloped upper jaw
  7. protruding lower jaw
  8. overcrowded teeth

Diagnosis:

(1) Medical history collection (2) Physical examination (3) X-ray examination (4) MRI of the brain (5) CT scan of brain and skull

Preventions:

Since Crouzon syndrome is the result of a rare genetic mutation, there's no way to prevent the condition. But a parent with Crouzon syndrome can avoid passing on the condition by using a combination of in vitro fertilization and genetic testing of the embryos they use.

Treatment:

Calvarial vault remodeling, minimally invasive skull repair, fronto-orbital advancement or calvarial vault remodeling, Le Fort advancements, distraction osteogenesis, airway treatments, dental treatments, etc.