Craniosynostosis

Craniosynostosis is a skull malformation that results in premature fusion of one or more of the bone plates in infancy. It is easily confused with plagiocephaly due to deformational molding, which can occur when a baby sleeps in the same position repeatedly or due to torticollis. It is important to distinguish the diagnosis because craniosynostosis can cause brain growth problems, and optimal treatment often should occur before the age of one.

Most children born with craniosynostosis are otherwise healthy and have no family history. However, genes may play a role. There are blood tests to look for mutations of EFNB1, FGFR1, FGFR2, FGFR3, and TWIST, which are common in craniofacial syndromes like Apert, Crouzon, Carpenter, Pfeiffer and Chotzen Syndromes. Craniosynostosis patients may deal with ophthalmological issues, sleep apnea, and insufficient jaw growth.

Patients with craniosynostosis are managed in a team approach, in coordination with a pediatric neurosurgeon.