FGFR Craniosynostosis Syndromes Overview

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding the FGFR craniosynostosis syndromes and their management.

Goal 1: Describe the clinical characteristics of FGFR craniosynostosis syndromes.

Goal 2: Review the genetic causes of FGFR craniosynostosis syndromes.

Goal 3: Provide an evaluation strategy to identify the genetic cause of an FGFR craniosynostosis syndrome in a proband.

Goal 4: Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of FGFR craniosynostosis syndromes.

Goal 5: Summarize current management recommendations for individuals with an FGFR craniosynostosis syndrome.