Bardet-Biedl Syndrome Overview

Abstract

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.

Topics & Concepts