Genetics

In 1994, when our son was diagnosed with sagittal synostosis, we were told that it was unlikely that the condition was hereditary. It was supposed to be a random occurrance, that happened without reason. Although some literature at the time suggested that craniosynostosis was sometimes due to intrauterine pressure on a fetus' skull, there were conflicting reports that suggested that pressure may result in temporary "postional molding" of the head, but in order for a the skull to result in true craniosynostosis, where the skull bones fuse prematurely, a mutated gene would have to send such a message.

In 1998, a "sagittal synostosis" gene was isolated (FGFR3). You can read the intial information we received and the follow up letter describing the test results.

A summary of several studies relating to genetics, heredity, and craniosynostosis can be found at the National Center for Biotechnology Information.

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