FGFR Craniosynostosis Syndromes Overview

Review
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
[updated ].

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.

Publication types

  • Review