Craniosynostosis, Genetics of
© 2013 Elsevier Inc. All rights reserved. Craniosynostosis is a medical condition defined by premature fusion of the cranial sutures of the skull; at least 20% of cases are caused by specific gene mutations or chromosomal abnormalities. This article summarizes the most important single gene causes of craniosynostosis, focusing particularly on the complex genotype-phenotype correlations of mutations in fibroblast growth factor receptors (FGFRs). FGFR mutations arise during spermatogenesis and involve a paradoxical selective advantage to mutant cells within the testis.