In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.

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Molecular Syndromology

Goos, J., & Mathijssen, I.M.J. (Irene M.J.). (2018). Genetic Causes of Craniosynostosis: An Update. Molecular Syndromology. doi:10.1159/000492266