Definition of Bardet-Biedl Syndrome

Reviewed on 9/1/2021

Bardet-Biedl syndrome is a rare genetic condition caused by mutations in one of several genes known as BBS genes that are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic projections from the surface of many types of cells that are involved with movement and cell signaling pathways. Symptoms of the condition vary, even among affected members of the same family, but common symptoms and signs can include obesity, vision loss, extra fingers or toes, and intellectual disability. Most affected males are infertile, and other organs may also be affected. It is usually inherited in an autosomal recessive manner, meaning that an affected individual must receive a mutated copy of the gene from each parent to have the condition.

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References
United States. National Institutes of Health. "Bardet-Biedl syndrome." <https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome/>.

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