The purpose of this overview is to:
Describe the clinical characteristics of Bardet-Biedl syndrome;
Review the genetic causes of Bardet-Biedl syndrome;
Provide an evaluation strategy to identify the genetic cause of Bardet-Biedl syndrome in a proband (when possible);
Review management of Bardet-Biedl syndrome;
Inform genetic counseling of family members of an individual with Bardet-Biedl syndrome.
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