Craniosynostosis

Alternative names

Premature closure of sutures

Definition

Craniosynostosis is a congenital defect (meaning it is present at birth). One or more sutures, the connections between skull bones, prematurely close during the first year of life, which causes an abnormally shaped skull.

Causes, incidence, and risk factors

The cause of craniosynostosis is unknown. In an infant's head, the sutures mark the boundaries between the flat bones that make up the skull. Premature closure of these sutures stops bony growth and results in deformity of the skull. The shape of the deformity is determined by which sutures are involved.

The condition may be hereditary and caused by a genetic defect, or it can occur sporadically in a family with no other affected relatives. The hereditary form often occurs with other defects that can cause seizures, diminished intellectual capacity, and blindness. Most cases, however, are sporadic (non-hereditary) and children with craniosynostosis are otherwise healthy and have normal intelligence.

Symptoms

• Absence of the normal feeling of a "soft spot" (fontanelle) on the newborn's skull
  
• Disappearance of the fontanelle early
  
• A raised hard ridge along the affected sutures
  
• Unusual head shape
  
• Slow or no increase in the head size over time as the baby grows
  

Signs and tests

A neurologic exam would help diagnose the condition, including:

• Measuring the infant's head circumference
  
• Doctor feeling the skull
  
• X-rays of the skull and/or a CT scan of the head
  

Treatment

The main treatment for craniosynostosis is surgery during infancy. The surgical goal is to relieve pressure, assure that the skull has the capacity to accommodate the brain's growth, and improve the appearance of the child's head.

Expectations (prognosis)

In the sporadic from of craniosynostosis, the results after surgery are generally good. Craniosynostosis that occurs along with inherited syndromes usually has less optimal outcomes, because these syndromes are associated with seizures, developmental delay, and blindness.

Overall, the outlook for craniosynostosis varies depending on whether single or multiple skull sutures are involved and the presence of other abnormalities. The outlook is better for those with a single suture involved and no other abnormalities.