Crouzon syndrome: premature fusion of the skull

Crouzon syndrome is a genetic abnormality of the bones of the skull. People who suffer from Crouzon syndrome therefore have very clear, characteristic facial features such as a large distance between the eyes, low-set ears, bulging eyes and an underdeveloped middle part of the face. Surgical intervention is often necessary to give the brain sufficient space and thus prevent motor problems and mental development delays.

Contents

  • What is Crouzon Syndrome?
  • Examples of deviations that can arise
  • Consequences of bone fusion
  • Treatment and prognosis

 

What is Crouzon Syndrome?

Crouzon syndrome or dysostosis craniofacialis herededitaria is a congenital abnormality in which several skull bones and other bones in the face grow together (prematurely). This resulted in the skull and face becoming deformed. As a result, the brain often does not have enough space to grow and because the eyes also have insufficient space, bulging eyes occur. While a child’s ears normally ‘move upwards’ as the child grows, this does not happen in someone with Crouzon syndrome, which means that hearing loss and Ménière’s disease occur above average in patients. In patients with Crouzon’s syndrome, abnormalities of the heart are also found above average. This mainly concerns a congenital narrowing of the aorta ( coarctation of the aorta ) and abnormalities in a blood vessel between the pulmonary artery and the aorta ( ductus arteriosus ).
The syndrome is named after Octave Crouzon, the French physician who first described this disease. The condition occurs in approximately 1 in 25,000 births.

Examples of deviations that can arise

Bone growth in patients with Crouzon syndrome does not always follow the same pattern. The following abnormalities can occur in the skull and face:

  • Trigonocephaly (fusion of the metopic suture),
  • Brachycephaly (fusion of the coronal suture),
  • Dolichocephaly (fusion of the sagittal suture),
  • Plagiocephaly (too early unilateral closure of the lambdoid and coronal sutures),
  • Oxycephaly (fusion of the coronal and lambdoidal sutures),
  • Kleeblattschaedel (too early closure of all sutures)

 

Consequences of bone fusion

As a result of the growth of the different bones, the following characteristics can arise:

  • Hypoplastic maxilla (underdevelopment of the middle part of the face)
  • Bulging eyes and strabismus
  • Hypertelorism (large distance between the eyes)
  • The absence of some teeth and closely spaced teeth
  • Low-set ears
  • Milder hearing problems due to abnormal ear canal position
  • Meniere’s disease

 

Treatment and prognosis

Surgical intervention is often necessary to prevent premature closure of sutures and thus not to endanger brain development. Without surgical intervention, blindness and mental development delay can follow. Cosmetic procedures are often also performed to beautify the face where possible. Patients often need to wear a type of helmet for several months after surgery to protect the brain from the impact of bumps or falls.
If no complications arise with these treatments, people with Crouzon Syndrome usually live a normal life, although they will have to learn to live with the fact that they are often stared at on the street because of their striking appearance.

Scroll to Top