Bardet-Biedl Syndrome Overview

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


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.

Publication types

  • Review