Can Craniosynostoses BeGenetically Transmitted?

Half of syndromic craniosynostosis cases, especially those caused by chromosomal anomalies, show hereditary (familial) transmission. Depending on the form of the syndrome, there may be autosomal dominant or autosomal recessive transmission with varying penetrance. In isolated craniosynostoses, on the other hand, genetic transmission has been shown in only 2%.

Genetic studies have shown that mutations in the FGFR2, FGFR3, MSX2 and TWIST genes and on the long arm of chromosome 10 cause craniosynostosis.