Fundamentals of Syndromic Craniosynostosis

Craniosynostosis refers to a significant number of deformities associated with the premature fusion of one or more cranial sutures. In around 15% of all patients with craniosynostosis, the condition may develop as part of a genetic syndrome (i.e., syndromic craniosynostosis). A multidisciplinary team must assess any patient with suspected syndromic craniosynostosis at a craniofacial center, where a thorough clinical evaluation, key imaging studies, molecular genetic investigation, genetic counseling, and focused patient management are performed. Syndromic craniosynostosis is a unique group of conditions for which management is quite complex and requires multiple staged procedures performed at age-appropriate intervals from newborn/infancy to skeletal maturity/adulthood. Surgery is indicated for functional and aesthetic reasons and to treat serious medical problems. Although children with syndromic craniosynostosis have a higher risk of developing intellectual disability and behavioral and emotional problems than the normative population, with satisfactory interdisciplinary management, these patients may perceive their quality of life as normal. The main objective of this chapter is to describe syndromic craniosynostosis as a clinical entity, provide a genetic background for its development, and explain some of the management protocols formulated for its treatment.