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.

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.

• 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

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

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.

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.

Craniosynostosis results in head deformity that can be severe and permanent if it is not corrected. Raised intracranial pressure, seizures, and developmental delay can occur.

Call your health care provider if you think your child's head has an unusual shape. A referral to a pediatric neurologist or neurosurgeon should follow.

Genetic counseling for people with hereditary craniosynostosis may be desired. Also, be sure to bring your child to well-child visits, so your pediatrician can routinely chart the growth of your infant's head over time. This will help identify the problem early if it occurs.