Bardet-Biedl Syndrome Overview

RaeLynn Forsyth; Meral Gunay-Aygun

Bardet-Biedl Syndrome Overview

Review

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

2003 Jul 14 [updated 2023 Mar 23].

Authors

RaeLynn Forsyth¹, Meral Gunay-Aygun^{2

3}

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ Departments of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
² Professor of Pediatrics and Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
³ Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland

PMID: 20301537
Bookshelf ID: NBK1363

Excerpt

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.

Sections

Publication types

Review