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Crouzon Syndrome
(Craniofacial Dysotosis)

Definition:
Crouzon syndrome is a genetic disorder. It is one of many birth defects that results in abnormal fusion between bones in the skull and face. Normally, as an infant’s brain grows, open sutures between the bones allow the skull to develop normally. When sutures fuse too early, the skull grows in the direction of the remaining open sutures. In Crouzon syndrome, bones in the skull and face fuse too early. This results in an abnormally shaped head, face, and teeth.

Crouzon disease is believed to affect 1 in 60,000 people.

Causes:
Crouzon syndrome is a genetic disorder. It is caused by mutations (abnormal changes) of the FGFR2 (fibroblast growth factor receptor) or less commonly of the FGFR3 genes. These genes help regulate the development of limbs. A mutation in these genes may cause bones in the skull to fuse too early. Researchers continue to learn more about the links between mutations in these genes and the various types of craniosynostosis syndromes they cause.

Risk Factors:
A risk factor is something that increases your chances of getting a disease or condition. Those most at risk for Crouzon syndrome are children of:
  • Parents with the disorder
  • Parents who do not have the disorder, but who carry the gene that causes the disorder.
  • Fathers at an older age at the time of conception
Symptoms:
The main signs and symptoms of Crouzon syndrome include:
  • Flattened top and back of head
  • Flattened forehead and temples
  • Mid-face that is small and located further back in the face than normal
  • Beaked-like nose
  • Compression of nasal passages, often causing reduced airflow through the nose.
  • Large, protruding lower jaw.
  • Misalignment of teeth
  • High-arched, narrow palate, or cleft palate.

Other symptoms and complications that can result from Crouzon syndrome include:

  • Hearing loss
  • Deformity of middle ears
  • Absence of ear canals
  • Meniere’s disease (dizziness, vertigo, or ringing in the ears)
  • Vision problems
  • Crossed eyes or involuntary eye movement
  • Curvature of the spine
  • Headaches
  • In some cases, fused joints.
  • Acanthosis nigricans (small, dark, velvety patches of skin)
Diagnosis:
A doctor can usually diagnosis Crouzon syndrome at birth or in early childhood based on the patient’s physical signs and symptoms. Tests are taken to confirm the diagnosis. These may include:
  • X-rays–a test that uses radiation to take a picture of structures inside the body, especially bones
  • MRI Scan–a test that uses magnetic waves to make pictures of the inside of the body
  • CT Scan–a type of x-ray that uses a computer to make pictures of the inside of the body
  • Genetic Testing–tests to confirm mutations in the FGFR2 or FGFR3 gene, which may be used if the clinical findings are not sufficient to make a diagnosis
Treatment:
There is no cure yet for Crouzon syndrome. Because the molecular cause is now known, scientists are exploring ways to block the processes that lead to early fusion of the sutures without affecting other important growth processes. These efforts are currently restricted to experimental animals, but human advances may be on the horizon. Currently, many of the symptoms can be treated with surgery. In addition, orthodontic treatment, eye and ear treatment, and supportive treatment are usually needed. Good dental care is also an important aspect of managing the care of children with Crouzon syndrome.

Treatment may include:

Surgery–there are a number of surgeries used to treat the symptoms of Crouzon syndrome. These include:

  • Craniectomy–removal and replacement of portions of the cranial bone. This surgery is done as early as possible after birth to:
    • Prevent pressure on and damage to the brain
    • Maintain a skull shape that is as normal as possible
  • Surgery to treat exophthalmos (protrusion of one or both eyeballs). This surgery:
    • Is done directly on the eye sockets or on the bones surrounding the eye sockets
    • Can help minimize, but cannot totally eliminate exophthalmos.
  • Surgery to treat protruding lower jaw. This surgery:
    • Removes a portion of the jaw bone
    • Is often very successful in normalizing the appearance of the jaw
  • Surgery to repair a cleft palate

Orthodontic Treatment–braces and other orthodontic treatments are usually necessary to help correct misalignment of teeth.

Eye and Ear Treatment–an ophthalmologist (eye specialist) and otolaryngologist (ear, nose, and throat specialist) should monitor infants and children with Crouzon syndrome. These specialists can check for problems and provide corrective treatment as necessary.

Supportive Treatment–this includes special education for children with a mental deficiency or mental retardation.

Prevention:
There is no known way to prevent Crouzon syndrome. If you have Crouzon syndrome or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
 
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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