Craniosynostosis, Genetics of

Abstract

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.