FGFR Craniosynostosis Syndromes Overview

Excerpt

The purpose of this overview is to:

1. 1

   Describe the clinical characteristics of FGFR craniosynostosis syndromes;

2. 2

   Review the genetic causes of FGFR craniosynostosis syndromes;

3. 3

   Provide an evaluation strategy to identify the genetic cause of an FGFR craniosynostosis syndrome in a proband;

4. 4

   Summarize current management recommendations for individuals with an FGFR craniosynostosis syndrome;

5. 5

   Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FGFR craniosynostosis syndromes.