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Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. The syndrome is named after Georges Bardet and Arthur Biedl. Two forms have been identified: Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity.
Major features Cause The detail biochemical mechanism that leads to BBS is still unclear. Recently, eight genes ( to ) that are responsible for the disease when mutated have been cloned, and most of the gene products encoded by these BBS genes are located in the basal body and cilia of the cell. It has been postulated that these BBS gene products might involve in the cell signaling pathway in the cilia, and these signaling systems play an essential role in the normal development so that a malfunction in these systems causes the diverse pathological effects of the Syndrome. In addition to so-called "signaling' along the cilia, it appears that Intraflagellar transport (IFT) of proteins along the cilia are essential for the formation and maintenance of healthy cells. In particular, abnormalities in retinal cilia are hypothesized to be related to the retinal dystrophy which is common in BBS patients. June 2006 Conference The conference was sponsored by a steering committee of BBS folk and parents/grandparents of children with BBS. It was directed to a lay audience. A primary purpose of the conference was to present the latest medical research results in an accessible fashion. This included one morning of presentations by leading BBS genetic researchers Dr. Richard Lewis (Baylor Medical Center, Houston) and Dr. Nicholas Katsanis (Johns Hopkins University, Baltimore, Maryland). Several additional doctors presented accessible information on growth and weight management; kidney issues; obesity & Syndrome X; pediatric bariatric surgery; and speech pathology & therapy. Location: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas. For additional information about the meeting, click here. | ||||||||
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