Crouzon Syndrome

(Craniofacial Dysotosis)

Pronounced: Krooz-on SIN-drom

Definition

Crouzon syndrome is a genetic problem. The bones in the skull and face join in the wrong way.

Infants have sutures between the bones in the face and skull. They allow the skull to expand as the child grows. They fuse together during adulthood when growth stops.

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 faulty gene known as FGFR2 (fibroblast growth factor receptor 2). It is not clear what causes this gene to change. Some may be passed on from parents' genes.

Risk Factors    TOP

Factors that may raise your child's chance of Crouzon syndrome are:

  • Parents with the disorder
  • Parents who do not have the disorder, but who carry the gene that causes it.
  • Fathers at an older age at the time of conception

Symptoms    TOP

Symptoms are:

  • Flattened top and back of head
  • Flattened forehead and temples
  • Mid-face that is small and 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 problems that can result from Crouzon syndrome are:

  • Problems with development of the inner ear and hearing loss
  • Meniere disease—lightheadedness, vertigo, or ringing in the ears
  • Problems with the eyes, including vision problems, crossed eyes, or eye movement that can't be controlled
  • 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. Many of the symptoms can be treated with surgery.

Treatment may be:

Surgery

There are a number of surgeries used to treat the symptoms of Crouzon syndrome. These are:

  • Craniectomy—Removal and replacement of parts of the skull. Done early 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 bulge 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 fix a cleft palate.

Orthodontic Treatment

Orthodontic treatment can help fix the alignment of teeth. It may mean braces.

Eye and Ear Treatment    TOP

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

Supportive Treatment    TOP

Children with an 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:

ACPA Family Services
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 July 6, 2018.
Crouzon syndrome. NIH Office of Rare Disease website. Available at: https://rarediseases.info.nih.gov/gard/6206/crouzon-syndrome/resources/1. Accessed July 6, 2018.
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 2018 by Kari Kassir, MD
Last Updated: 7/6/2018

EBSCO Information Services is fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation.

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

To send comments or feedback to our Editorial Team regarding the content please email us at healthlibrarysupport@ebsco.com. Our Health Library Support team will respond to your email request within 2 business days.