Bardet-Biedl Syndrome Overview
Summary
The purpose of this overview is to increase the awareness of clinicians regarding the causes of Bardet-Biedl syndrome and related genetic counseling issues.
The following are the goals of this overview:
Goal 1.
Describe the clinical characteristics of Bardet-Biedl syndrome.
Goal 2.
Review the genetic causes of Bardet-Biedl syndrome.
Goal 3.
Provide an evaluation strategy to identify the genetic cause of Bardet-Biedl syndrome in a proband (when possible).
Goal 4.
Review management of Bardet-Biedl syndrome.
Goal 5.
Inform genetic counseling of family members of an individual with Bardet-Biedl syndrome.