Craniosynostosis: clinical and fundamental aspects

textabstractPrior to the discovery of the genetic background of craniosynostosis, its classification was purely based on clinical features. This classification system did however have its pitfalls which became more obvious after comparing it with the detected genetic mutations. Because this classification has been the basis for clinical practice for years and still is applied world wide, this chapter will begin by giving a historical and clinical view on craniosynostosis before discussing the genetic aspects.