Bardet-Biedl syndrome

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Bardet-Biedl syndrome
ICD-10 Q87.8
ICD-9 759.89
OMIM 209900
DiseasesDB 7286
MeSH D020788

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Laurence-Moon-Biedl syndrome; Laurence-Moon-Biedl-Bardet; LMBBS; LMBS

Overview

The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.[1]

Historical Perspective

The syndrome is named after Georges Bardet and Arthur Biedl.[2] The first known case was reported by Laurence and Moon in 1866 at the Ophthalmic Hospital in South London. 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 usually considered a separate entity. However, some recent research suggests that the two conditions may not be distinct.[3]

Classification

Two forms have been identified:

  • Bardet-Biedl syndrome 1 (BBS1) has no linkage to chromosome 16
  • Bardet-Biedl syndrome 2 (BBS2) is mapped to markers on chromosome 16.

Major features

Cause

The detail biochemical mechanism that leads to BBS is still unclear. Recently, eight genes (BBS1 to BBS8) 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 LMBBS Association Family Meeting for non-medical-professionals was held in Houston, Texas, June 16-17, 2006.
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.

References

  1. Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1999). "New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey". J. Med. Genet. 36 (6): 437–46. PMID 10874630.
  2. Template:WhoNamedIt
  3. Moore S, Green J, Fan Y; et al. (2005). "Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A. 132 (4): 352–60. PMID 15637713.

External links

Template:Phakomatoses and other congenital malformations not elsewhere classified

da:Moon-Bardet-Biedl syndrom de:Laurence-Moon-Biedl-Bardet-Syndrom nl:Syndroom van Laurence-Moon-Bardet-Biedl fi:Bardet-Biedlin oireyhtymä


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