For the past 2 decades, clinical and basic science researchers have gained significant insights into the molecular and genetic pathways associated with common forms of craniosynostosis. This has led to invaluable information for families and physicians in their attempts to understand the heterogeneity of craniosynostosis. Genetic mutations have been identified in the fibroblast growth factor receptors (FGFRs) as well as in other targets, including TWIST1, BMP, and RUNX2. Greater understanding of these and other pathways has led to the development of innovative approaches for applying medical therapies to the treatment of craniosynostosis, in particular by maintaining suture patency. In this article, the authors discuss the molecular pathophysiological mechanisms underlying various forms of craniosynostosis. They also highlight recent developments in the field of molecular craniosynostosis research with the hope of identifying targets for medical therapies that might augment the results of surgical intervention.
Keywords: BMP = bone morphogenetic protein; ERK1/2 = extracellular signal-related kinases 1 and 2; FGFR = fibroblast growth factor receptor; SNP = single nucleotide polymorphism; TGFβ = transforming growth factor β; TWIST; craniosynostosis; fibroblast growth factor receptor; genetics; molecular mechanisms; suture biology; therapy.