Bardet-Biedl syndrome
| Bardet-Biedl syndrome | |
| ICD-10 | Q87.8 |
|---|---|
| ICD-9 | 759.89 |
| OMIM | 209900 |
| DiseasesDB | 7286 |
| MeSH | D020788 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
- 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 some cases.[1]
Eponym and classification
The syndrome is named after Georges Bardet and Arthur Biedl.[2]
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.
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]
Major features
- Eyes: Pigmentary retinopathy, poor visual acuity, low vision, and/or blindness.
- Nose: Loss of, or reduced sense of, smell. (anosmia)
- Hand and foot: Polydactyly or syndactyly (webbing of fingers and toes).
- Cardiovascular system: Hypertrophy of interventricular septum and left ventricle and dilated cardiomyopathy.
- Gastrointestinal system: Fibrosis.
- Urogenital system: Hypogonadism, renal failure, urogenital sinuses, ectopic urethra, uterus duplex, septate vagina, and hypoplasia of the uterus, ovaries, and fallopian tubes.
- Growth and development: Mental and growth retardation.
- Behavior and performance: a wide variety of socialization and social interaction problems have been identified with BBS. Some refer to it as a kind of "mild-Autism." Many children who are later (explicitly and formally) diagnosed with the syndrome have gone through an extended period of time where school and medical professionals have struggled to find a name for the child's problems over several years.
- Heredity: The syndrome is familial and is transmitted as an autosomal recessive trait. chromosome 3 locus appears to be linked to polydactyly of all four limbs, whereas chromosome 15 is associated with early-onset morbid obesity and is mostly confined to the hands, and chromosome 16 represents the "leanest" form.
- Additional features: Obesity.
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
- ↑ 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.
- ↑ synd/3745 at Who Named It
- ↑ 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
- Laurence Moon Bardet Biedl Society (UK-based)
- LMBBS Association (US-based; newly formed in June at the Houston 2006 BBS conference)
- The Importance of Being Cilia Accessible article at Howard Hughes Medical Institute on the importance and extensive use of cilia and basal bodies in many organ systems of human physiology. Includes multiple specific mentions of BBS.
- BBS and loss of the sense of smell at Johns Hopkins University
- Overview at United States National Library of Medicine
- Foundation Fighting Blindness
- Bardet-Biedl Syndrome Association francaise (France-based; in French language) Syndrome de Bardet-Biedl (BBS)
WikiDoc Research Resources for Bardet-Biedl syndrome | |
|---|---|
| Articles on Bardet-Biedl syndrome | Most recent articles on Bardet-Biedl syndrome • Most cited articles on Bardet-Biedl syndrome • Review articles on Bardet-Biedl syndrome • Articles on Bardet-Biedl syndrome in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Bardet-Biedl syndrome | Powerpoint slides on Bardet-Biedl syndrome • Images of Bardet-Biedl syndrome • Photos of Bardet-Biedl syndrome • Podcasts & MP3s on Bardet-Biedl syndrome • Videos on Bardet-Biedl syndrome |
| Evidence Based Medicine Regarding Bardet-Biedl syndrome | AND (Cochrane Database Syst Rev[http://worldselectshop.com/?id=9361 Cochrane Collaboration on Bardet-Biedl syndrome • Bandolier on Bardet-Biedl syndrome • TRIP on Bardet-Biedl syndrome |
| Cost Effectiveness of Bardet-Biedl syndrome | AND (Cost effectiveness) |
| group5 = Clinical Trials Involving Bardet-Biedl syndrome | list5 = Ongoing Trials on Bardet-Biedl syndrome at Clinical Trials.gov • Trial results on Bardet-Biedl syndrome • Clinical Trials on Bardet-Biedl syndrome at Google
| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Bardet-Biedl syndrome
| list6 = US National Guidelines Clearinghouse on Bardet-Biedl syndrome • NICE Guidance on Bardet-Biedl syndrome • NHS PRODIGY Guidance • FDA on Bardet-Biedl syndrome • CDC on Bardet-Biedl syndrome
| group7 = Textbook Information on Bardet-Biedl syndrome
| list7 = Books and Textbook Information on Bardet-Biedl syndrome
| group8 = Pharmacology Resources on Bardet-Biedl syndrome
| list8 =
AND (Dose)}} Dosing of Bardet-Biedl syndrome • AND (drug interactions)}} Drug interactions with Bardet-Biedl syndrome • AND (side effects)}} Side effects of Bardet-Biedl syndrome • AND (Allergy)}} Allergic reactions to Bardet-Biedl syndrome • AND (overdose)}} Overdose information on Bardet-Biedl syndrome • AND (carcinogenicity)}} Carcinogenicity information on Bardet-Biedl syndrome • AND (pregnancy)}} Bardet-Biedl syndrome in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Bardet-Biedl syndrome •
| group9 = Genetics, Pharmacogenomics, and Proteinomics of Bardet-Biedl syndrome
| list9 =
AND (pharmacogenomics)}} Genetics of Bardet-Biedl syndrome • AND (pharmacogenomics)}} Pharmacogenomics of Bardet-Biedl syndrome • AND (proteomics)}} Proteomics of Bardet-Biedl syndrome
| group10 = Newstories on Bardet-Biedl syndrome
| list10 = Bardet-Biedl syndrome in the news • Be alerted to news on Bardet-Biedl syndrome • News trends on Bardet-Biedl syndrome</small>
| group11 = Commentary on Bardet-Biedl syndrome
| list11 =
Blogs on Bardet-Biedl syndrome
| group12 = Patient Resources on Bardet-Biedl syndrome | list12 = Patient resources on Bardet-Biedl syndrome • Discussion groups on Bardet-Biedl syndrome • Patient Handouts on Bardet-Biedl syndrome • Directions to Hospitals Treating Bardet-Biedl syndrome • Risk calculators and risk factors for Bardet-Biedl syndrome
| group13 = Healthcare Provider Resources on Bardet-Biedl syndrome
| list13 =
Symptoms of Bardet-Biedl syndrome • Causes & Risk Factors for Bardet-Biedl syndrome • Diagnostic studies for Bardet-Biedl syndrome • Treatment of Bardet-Biedl syndrome
| group14 = Continuing Medical Education (CME) Programs on Bardet-Biedl syndrome | list14 = CME Programs on Bardet-Biedl syndrome
| group15 = International Resources on Bardet-Biedl syndrome | list15 = Bardet-Biedl syndrome en Espanol • Bardet-Biedl syndrome en Francais
| group16 = Business Resources on Bardet-Biedl syndrome | list16 = Bardet-Biedl syndrome in the Marketplace • Patents on Bardet-Biedl syndrome
| group17 = Informatics Resources on Bardet-Biedl syndrome | list17 = List of terms related to Bardet-Biedl syndrome
}}da:Moon-Bardet-Biedl syndrom
de:Laurence-Moon-Biedl-Bardet-Syndromnl:Syndroom van Laurence-Moon-Bardet-Biedl
fi:Bardet-Biedlin oireyhtymä
Table of Contents In Alphabetical Order | By Individual Diseases | Signs and Symptoms | Physical Examination | Lab Tests | Drugs
Editor Tools Become an Editor | Editors Help Menu | Create a Page | Edit a Page | Upload a Picture or File | Printable version | Permanent link | Maintain Pages | What Pages Link HereThere is no pharmaceutical or device industry support for this site and we need your viewer supported Donations | Editorial Board | Governance | Licensing | Disclaimers | Avoid Plagiarism | Policies
