Bardet-Biedl Syndrome Overview
Learn About Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). The proteins produced from BBS genes are involved in the maintenance and function of cilia.
In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin population of Kuwait, affecting about 1 in 13,500 newborns.
Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Val Sheffield is a Medical Genetics provider in Urbandale, Iowa. Dr. Sheffield is rated as an Elite provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are 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 in London, United Kingdom. Ms. Forsythe is rated as an Elite expert by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Bardet-Biedl Syndrome, Obesity, Metabolic Syndrome, and Alstrom Syndrome.
Helene Dollfus practices in Strasbourg, France. Ms. Dollfus is rated as an Elite expert by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Bardet-Biedl Syndrome, Polydactyly, Leber Congenital Amaurosis, Alstrom Syndrome, and Vitrectomy.
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Published Date: September 01, 2013
Published By: National Institutes of Health