Craniosynostosis

Craniosynostosis

What is craniosynostosis?craniosynostosis

The normal skull consists of several plates of bone that are separated by sutures. The sutures (fibrous joints) are found between the bony plates in the head. As the infant grows and develops, the sutures close and the bones fuse together, forming a solid piece of bone, called the skull.

Craniosynostosis is a condition in which the sutures close too early, causing problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance.

What causes craniosynostosis?

Craniosynostosis occurs in one out of 2,000 live births and affects males slightly more often than females.

Craniosynostosis is most often sporadic (occurs by chance). In some families, craniosynostosis is inherited in one of two ways:

  • Autosomal recessive. Autosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are obligate carriers. Carrier parents have a one in four, or 25 percent, chance with each pregnancy, to have a child with craniosynostosis. Males and females are equally affected.
  • Autosomal dominant. Autosomal dominant means that one gene is necessary to express the condition, and the gene is passed from parent to child with a 50/50 risk for each pregnancy. Males and females are equally affected.

Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.

Management of craniosynostosis

Specific treatment for craniosynostosis will be determined by your child’s doctor based on:
  • Your child’s age, overall health, and medical history
  • Extent of the craniosynostosis
  • Type of craniosynostosis (which sutures are involved)
  • Your child’s tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the craniosynostosis
  • Your opinion or preference

Surgery is typically the recommended treatment. The goal of treatment is to reduce the pressure in the head and correct the deformities of the face and skull bones. Less commonly, surgery is needed to decrease pressure within the skull.

The optimal time to perform surgery is before the child is 1 year of age since the bones are still very soft, have not fused at other sutures, and are easy to work with. Surgery may be necessary at a much earlier age depending on the severity of the condition. Because blood loss can be an issue in this type of surgery, surgery is often delayed in the very young child to allow some growth and development and a greater blood volume. Most procedures are done between 3 and 8 months of age.

 

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