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Crouzon Syndrome

(Craniofacial Dysotosis)

Pronounced: Krooz-on SIN-drom

Definition

Crouzon syndrome is a genetic disorder. It results in abnormal joining of the bones in the skull and face.

Infants have sutures between the bones in the face and skull. As an infant’s brain grows, these sutures allow the skull to expand. These sutures fuse together by adulthood when the skull and brain stop growing.

In Crouzon syndrome, the bones in the skull and face fuse too early. The skull is then forced to grow in the direction of the remaining open sutures. This causes an abnormally shaped head, face, and teeth.

Normal Open Sutures in Infant Skull (Pink)

Infant Soft Spot
Copyright © Nucleus Medical Media, Inc.

Causes    TOP

Crouzon syndrome is caused by a defect in a specific gene known as FGFR2 (fibroblast growth factor receptor 2). It is not clear what causes this gene to mutate. Some may be inherited from parents' genes.

Risk Factors    TOP

Factors that may increase your child's chance of Crouzon syndrome include:

  • 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    TOP

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
  • Beak-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:

  • Problems with development of the inner ear and hearing loss
  • Meniere’s disease—lightheadedness, vertigo, or ringing in the ears
  • Problems with the eyes, including vision problems, crossed eyes, or involuntary eye movement
  • Curvature of the spine
  • Headaches
  • Acanthosis nigricans—small, dark, velvety patches of skin
  • Hydrocephalus—build up of fluid in the skull

Diagnosis    TOP

Crouzon syndrome can usually be diagnosed based on physical signs and symptoms.

Images may be taken of the skull, spine, or hands. This can be done with:

Your doctor may also do genetic testing to confirm the diagnosis.

Treatment    TOP

There is no cure for Crouzon syndrome. Currently, many of the symptoms can be treated with surgery.

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 skull. Done as early as possible after birth to prevent damage to the brain. It will also help to maintain a skull shape that is as normal as possible.
  • Surgery to treat protrusion of one or both eyeballs—Adjustments are made to the bones surrounding the eye sockets.
  • Surgery to treat protruding lower jaw—To normalize the appearance of the jaw.
  • Surgery to repair a cleft palate.

Orthodontic Treatment

Orthodontic treatment can help correct the alignment of teeth. It may include braces.

Eye and Ear Treatment    TOP

Specialists should monitor infants and children with Crouzon syndrome. They can check for eye and ear problems and treat them as necessary.

Supportive Treatment    TOP

Children with a mental deficiency or intellectual disability may need special education help.

Prevention    TOP

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.

RESOURCES:

Cleft Palate Foundation
http://www.cleftline.org
Office of Rare Diseases Research
http://rarediseases.info.nih.gov

CANADIAN RESOURCES:

Sick Kids—The Hospital for Sick Children
http://www.sickkids.ca

References:

Kjaer I, Hansen BF, Kjaer KW, Skovby F. Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome. Am J Med Genet. 2000;90(5):386-389.
Craniosynostosis. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T289820/Craniosynostosis. Updated August 5, 2016. Accessed September 23, 2016.
Crouzon syndrome. NIH Office of Rare Disease website. Available at: https://rarediseases.info.nih.gov/gard/6206/crouzon-syndrome/resources/1. Updated November 7, 2016. Accessed June 6, 2016.
Dalben Gda S, Costa B, Gomide MR. Oral health status of children with syndromic craniosynostosis. Oral Health Prev Dent. 2006;4(3):173-179.
Perlyn CA, Morriss-Kay G, Darvann T, Tenenbaum M, Ornitz DM. A model for the pharmacological treatment of crouzon syndrome. Neurosurgery. 2006 Jul;59(1):210-215.
Last reviewed June 2016 by Kari Kassir, MD
Last Updated: 6/3/2014

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