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craniosynostosis

Definition
Craniosynostosis is the premature closure of the spaces between the bones that make up the skull.

What is going on in the body? 
In the growing child, the skull is made up of a number of bony plates. The bony plates are separated by sutures. As a baby reaches his or her first year of life, the bony plates of the skull become closer and eventually fuse together. The size and shape of the skull more or less reflects the size and shape of the brain. In a baby with craniosynostosis, one or more of the skull sutures stop growing before brain growth is complete. It can lead to constriction of the brain and deformity of the skull and facial structures.

What are the signs and symptoms of the disease? 
Craniosynostosis is usually identified when a parent or doctor see an asymmetry in the shape of the baby's skull. When symptoms do occur, they may include:
  • early closure of the soft spot at the front top of the head
  • a ridge in one of the suture lines that can be seen or felt
  • vision and hearing problems
  • slow growth of head circumference
What are the causes and risks of the disease? 
Craniosynostosis occurs in about 1 in 2000 live births. It occurs more often with a twin pregnancy or if the shape of the uterus is abnormal and constrains the growth of the baby's head. Craniosynostosis is also seen more often:
  • if the mother smokes
  • if the foetus is exposed to high altitude while in the womb
  • if the baby has Apert syndrome, a congenital condition that causes multiple abnormalities
  • if the baby has Crouzon's disease, a congenital disease that causes abnormalities of the face, as well as other disorders
What can be done to prevent the disease? 
There is no known prevention for craniosynostosis. Avoiding smoking and higher altitudes may decrease the risk of some forms of this condition. A couple with a family history of congenital disorders may find genetic counselling helpful.

How is the disease diagnosed? 
Craniosynostosis is diagnosed initially by noting an abnormal shape to an infant's head. Cranial CT scans can define the skull shape and the involved sutures.

What are the long-term effects of the disease? 
Untreated craniosynostosis leads to significant skull deformity. If only one suture is involved, there will probably be no interference with brain function. If more than one suture is involved, brain function may be impaired.

What are the risks to others? 
Craniosynostosis poses no risk to others. If there is a possibility this condition was inherited, genetic counselling may help with family planning.

What are the treatments for the disease? 
Surgery often involves several surgical specialties, such as plastic and neurological surgery. It is usually done in multiple stages, with the first surgery done sometime in the first year of life. Subsequent procedures are often done later in childhood.

The goals of surgery are to:
  • keep the pressure inside the brain normal
  • allow normal brain and skull growth
  • improve vision, voice, and dental functions
  • minimise cosmetic defects
What are the side effects of the treatments? 
Complications of surgery to correct craniosynostosis are rare, but can include damage to the brain or eye. Surgery can also cause bleeding, infection, or allergic reaction to anaesthesia.

What happens after treatment for the disease? 
Follow-up will depend on the extent of the craniosynostosis and any corrective surgery. At times, further treatment and surgeries may be needed to treat deformities of the skull. Recovery from surgery may take a few days to a few weeks.

How is the disease monitored? 
Any new or worsening symptoms should be reported to the doctor.

Author: 
Reviewer: HealthAnswers Australia Medical Review Panel
Editor: Dr David Taylor, Chief Medical Officer HealthAnswers Australia
Last Updated: 1/10/2001
Contributors
Potential conflict of interest information for reviewers available on request
 


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