Bardet-Biedl SyndromeSymptoms, Doctors, Treatments, Advances & More
Bardet-Biedl Syndrome Overview
Learn About Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The specific features and the course of this condition can vary greatly among affected individuals.
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in at least 26 different genes (often called the BBS genes) cause Bardet-Biedl syndrome. These genes are known or suspected to play important roles in the function of certain types of cilia. Cilia are microscopic projections that stick out from the surface of most cells. Primary cilia are a specific type of cilia that transmit signals from the outside of the cell to the inside. They are necessary for the perception of sensory input (such as sight, hearing, and smell), and they play an important role in cell communication. The proteins produced from the BBS genes are involved in the maintenance and function of primary cilia.
In most of North America and Europe, Bardet-Biedl syndrome affects 1 in 120,000 to 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada) and in certain populations of Kuwait. Bardet-Bieldl syndrome is most common on the Faroe Islands in the North Atlantic Ocean, where it affects 1 in 3,700 newborns.
Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a pathogenic variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Office
Andrea Haqq is a Pediatric Endocrinologist practicing medicine in Durham, North Carolina. Dr. Haqq is rated as an Elite provider by MediFind in the treatment of Bardet-Biedl Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Bardet-Biedl Syndrome, Prader-Willi Syndrome, Obesity, Sleeve Gastrectomy, and Islet Cell Transplantation.
Val Sheffield is a Medical Genetics provider practicing medicine in Urbandale, Iowa. Dr. Sheffield is rated as an Elite provider by MediFind in the treatment of Bardet-Biedl Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Bardet-Biedl Syndrome, Polydactyly, Ocular Hypertension (OHT), and Retinopathy Pigmentary Mental Retardation. Dr. Sheffield is currently accepting new patients.
Guys And St. Thomas' Hospitals
Elizabeth Forsythe practices practicing medicine in London, United Kingdom. Ms. Forsythe is rated as an Elite expert by MediFind in the treatment of Bardet-Biedl Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Bardet-Biedl Syndrome, Obesity, Alstrom Syndrome, and Metabolic Syndrome.
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Published Date: August 25, 2026
Published By: National Institutes of Health