Epidemiology, Genetics, and Pathophysiology of Craniosynostosis

KEY POINTS Craniosynostosis can be differentiated from benign head shapes that may share some characteristics based on predictable physical examination findings, illustrated in this article. Potential in utero exposures to some medications, maternal medical conditions, and uterine constraints are associated with an increased risk of single suture craniosynostosis (SSC). Several gene variants are associated with single suture and multi-suture craniosynostosis (MSC), although genetic testing may be reserved for specific clinical scenarios whereby a variant is more likely to be identified.