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Bardet-biedl Syndrome:     more detail

Bardet-Biedl Syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Avis Gibons, 2005 Biochemists focus on BBS.(Michel Leroux and Oliver Blacque's research on Bardet-Biedl Syndrome ): An article from: Canadian Chemical News RETINAL DEGENERATION COMBINED WITH OBESITY, DIABETES MELLITUS AND NEUROGENOUS DEAFNESS. A Specific Syndrome (not hitherto described) Distinct from the Laurence-Moon-Bardet-Biedl Syndrome. A Clinical, Endrocrinological and Genetic Examination Base on a Large Pedigree. by C. H., B. Hallgreen, L. B. Nilsson and H. à sander. ALSTRÖM, 1959 A rare presentation of Bardet-Biedl syndrome with renal failure, severe osteodystrophy and multiple fractures.(Letter To Editor)(Letter to the Editor) ... from: Indian Journal of Human Genetics The (Laurence Moon) Bardet Biedl syndrome (Van Gorcum's medical collection, no. 207) by W Stiggelbout, 1969

lists with details

41. Bardet-Biedl Syndrome (BBS)
    bardetbiedl syndrome (BBS), What causes bardet-biedl syndrome? Bardet-Biedlsyndrome is characterized as recessively inherited.  
    http://www.visionrx.com/library/enc/enc_bardetbiedl.asp
    
    Extractions: Bardet-Biedl syndrome is a rare genetic disorder that affects the brain and can cause multiple physical problems including a deterioration of the intellect and neurological functions. The syndrome sometimes affects eyesight with a condition called rod-cone dystrophy, a degeneration of light-sensitive cells in the periphery of the retina. This eye disorder causes night blindness, tunnel vision, decreased visual acuity, and photophobia (extreme sensitivity of the eyes to light). Other symptoms of Bardet-Biedl syndrome may include extra toes and/or fingers, mental retardation, kidney disease, and obesity. Bardet-Biedl syndrome is characterized as recessively inherited. In other words, neither parent exhibits characteristics of the disorder, but both carry the recessive gene that causes the disorder. Parents who have one affected child run a 25 percent chance in each additional pregnancy of the condition occurring again. There is also a two in three chance that children of subsequent pregnancies, although not affected, will be carriers of the recessive gene. The syndrome is rare because the recessive gene is only carried by approximately 1 in 179 people. Therefore, a person carrying the gene is unlikely to conceive children with another person who also carries the gene. How is Bardet-Beidl treated?

42. Bardet-Biedl Syndrome Information Page Diseases Database
    bardetbiedl syndrome Information Page. bardet-biedl syndrome relatedtopics and Gobardet-biedl syndrome specific sites. GoSend Bardet  
    http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=7286

43. Bardet-Biedl Syndrome: A Review Of Chinese Literature And A Report Of Two Cases
    bardetbiedl syndrome a review of Chinese literature and a report of two cases.Wei Lian-Jun 1 , Pang Xueying 1 , Duan Cunyou 1 and Pang Xuangying 1.  
    http://www.szp.swets.nl/szp/journals/og192107.htm

44. Bardet-Biedl Laurence-Moon Syndroom/History
    Based on a Swiss study several decades ago, bardetbiedl syndrome was estimatedto occur in 1 of 160,000 births in European countries. bardet-biedl syndrome.  
    http://www.angelfire.com/co3/PEKICH/BBLMS_history.html
    
    Extractions: T h e Bardet-Biedl and Laurence-Moon syndromes are two uncommon disorders. Both syndromes are genetic, that is, caused by altered genes, and occur throughout the world, equally in men and in women. Historically these conditions were so similar that for some time they had been considered the same disorder. However, in the past few years, it has become apparent that these are two separate and distinct syndromes Brief history I n 1866 doctors Laurence and Moon in England described four members of the same family who had retinal problems, unsteady gait and spinal cord problems, and developmental delays. In the 1920’s Doctors Bardet (in France) and Biedl (in Germany) independently published articles describing patients with extra fingers and toes at birth, infantile obesity, and retinal disorders. The similarities of the signs in these patients were so striking that it was decided to adopt the suggestion to speak of these as one syndrome: Laurence-Moon/Bardet-Biedl Syndrome.

45. Bardet-Biedl Laurence-Moon Syndroom/Treatment
    bardetbiedl syndrome and Laurence-Moon Syndrome are incurable. Proper medical treatmentand emotional guidance help a patient with either syndrome to cope.  
    http://www.angelfire.com/co3/PEKICH/BBLMS_treatment.html
    
    Extractions: top NL / ENG Home History Symptoms Treatment Aids Cause Parent Contact Group View guestbook ... e-mail Bardet-Biedl Syndrome and Laurence-Moon Syndrome are incurable. Proper medical treatment and emotional guidance help a patient with either syndrome to cope. Below we give some suggestions for certain symptoms related to the syndromes. 1.RETINAL DISORDERS AND NIGHT BLINDNESS R etinal dysfunction is incurable at this time. With that in mind it is essential to use the remaining vision by wearing proper corrective lenses. Regular visits to an ophthalmologist who is skilled in retinal disorders and in refraction are imperative. Emotional and especially practical guidance of children and young adults who are losing their vision is not an easy task. Because of their decreasing vision and night blindness, people with Laurence-Moon or Bardet-Biedl Syndromes benefit from orientation and mobility training and the use of a guide cane. This way they can still maneuver safely in low light situations.

46. Blindness Resource Center: Eye Diseases And Conditions
    Top of Listing LAURENCEMOON-bardet-biedl syndrome Laurence-Moon-Bardet-BiedlSyndrome (LMBBS) This page is aimed primarily at medical and health-care  
    http://www.nyise.org/speech/eye.htm

47. Blindness Resource Center: Eye Diseases And Conditions
    Top of Listing LAURENCEMOON-bardet-biedl syndrome. Laurence-Moon-Bardet-BiedlSyndrome (LMBBS) This page is aimed primarily at medical and health-care  
    http://www.nyise.org/eye.htm

48. Bardet-Biedl Syndrome - General Practice Notebook
    medical information from General Practice Notebook. bardetbiedl syndrome.characterised by retinal dystrophy, hypogonadism, reduced  
    http://www.gpnotebook.co.uk/cache/-1429209021.htm

49. 2581: Homozygosity And Linkage-Disequilibrium Mapping Of Bardet-Biedl Syndrome T
    Program Nr 2581 Homozygosity and LinkageDisequilibrium Mapping ofbardet-biedl syndrome Type 1 (BBS1). T. Young 1 , MO Woods 1  
    http://www.faseb.org/genetics/ashg99/f2581.htm
    
    Extractions: Program Nr: 2581 Homozygosity and Linkage-Disequilibrium Mapping of Bardet-Biedl Syndrome Type 1 (BBS1). T. Young , M.O. Woods , P.S. Parfrey , J.S. Green , D. Hefferton , W.S. Davidson 1) Fac Medicine, Memorial Univ Newfoundland, St John's, NF, Canada; 2) Dept Biochem, Memorial Univ Newfoundland, St John's, NF, Canada.

50. William S. Davidson, Selected Recent Publications.
    (2001). Triallelic Inheritance in bardetbiedl syndrome, a Mendelian RecessiveDisorder. A fifth locus for bardet-biedl syndrome Maps to chromosome 2q31. Am.  
    http://www.sfu.ca/mbb/mbb/faculty/davidson/publica.html
    
    Extractions: Selected Recent Publications Parfrey, PS, Davidson, WS, Green, JS (2002). Clinical and genetic epidemiology of inherited renal disease in Newfoundland. Kidney International 61:1925-1934. Katsanis, N, Ansley, SJ, Badano, JL, Eichers, ER, Lewis, RA, Hoskins, BE, Scambler, PJ, Davidson, WS, Beales, PL, Lupski, JR. (2001). Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder. Science 293: 2256-2259. Beales, PL, Katsanis, N, Lewis, RA, Ansley, SJ, Elcioglu, N, Raza, J, Woods, MO, Green, JS, Parfrey, PS, Davidson, WS, Lupski, JR (2001). Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci. Am. J. Hum. Genet. 68:606-616. Katsanis, N, Beales, PL, Woods, MO, Lewis, RA, Green, JS, Parfrey, PS, Ansley, SJ, Davidson, WS, Lupski, JR (2000). Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genetics 26:67-70. Young, TL, Woods, MO, Parfrey, PS, Green, JS, Hefferton, D, Davidson, WS (1999). A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1) Interval to 1 cM. Am. J. Hum. Genet. 65:1680-1687.

51. Perinnöllisyysklinikan Tietolehtiset Sekä Tilauslomake
    Avainsanat (synonyymit) LaurenceMoon-Bardet-Biedl – oireyhtymä, Laurence-Moon-Bardet-Biedl– syndrooma, bardet-biedl syndrome, Laurence-Moon-Bardet  
    http://www.vaestoliitto.fi/toimintayksikot/perinnollisyysklinikka/sisaltosivut/b
    
    Extractions: Väestöliiton perinnöllisyysklinikka 2002 Bardet-Biedl-oireyhtymästä Avainsanat (synonyymit): Laurence-Moon-Bardet-Biedl – oireyhtymä, Laurence-Moon-Bardet-Biedl – syndrooma, Bardet-Biedl syndrome, Laurence-Moon-Bardet-Biedl syndrome Bardet-Biedl-oireyhtymä (BBS) on eräitä arabiväestöjä lukuun ottamatta erittäin harvinainen oireyhtymä, jonka esiintyvyydeksi on arvioitu 1:150 000. Oireyhtymän pääoireet ovat silmänpohjan rappeuma, kehityksen hitaus ja oppimisvaikeudet, ylipainoisuus, ylimääräiset pikkuvarpaat ja/tai pikkusormet sekä sukurauhasten toimintaan vaikuttavien hormonien vaje. Oireet ilmenevät ylimääräisiä sormia tai varpaita lukuunottamatta vähitellen lapsen iän karttuessa ja diagnoosin on usein päästy vasta kouluikää lähestyttäessä. Diagnoosin asettamiseen vaaditaan neljä mainituista viidestä pääoireesta ellei suvussa ole aiempaa BBS-tapausta. BBS:ää hyvin läheisesti muistuttavat Laurence-Moon, Alström, Biemond ja McKusic-Kaufman -oireyhtymät. Varsinkin BBS-, Laurence-Moon ja Alström -piirteitä saattaa esiintyä saman sisarussarjankin eri potilailla ja oireyhtyminen lopullinen erottelu toisistaan ratkennee vasta, kun niitten taustalla olevat geenit löytyvät. Toiset asiantuntijat haluavat tässä vaiheessa pitää BBS:ää, Laurence-Moonia ja Alströmiä yhtenä tautikokonaisuutena.

52. IGM: Faculty & Staff: Faculty Profile: Nicholas Katsanis, PhD
    Our laboratory is interested in understanding this phenomenon and has focusedon bardetbiedl syndrome (BBS), a clinically and genetically heterogeneous  
    http://www.hopkinsmedicine.org/geneticmedicine/Faculty/FacultyProfile.cfm?Profil

53. Searchalot Directory For Bardet-Biedl Syndrome
    Related Web Sites. National Library of Medicine A summary of Bardet-Biedlsyndrome and a list of major features. Readers Digest  
    http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders
    
    Extractions: Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Brain Diseases : Bardet-Biedl Syndrome Related Web Sites National Library of Medicine - A summary of Bardet-Biedl syndrome and a list of major features.

54. LAURENCE-MOON SYNDROME
    A definition of Laurence-Moon syndrome followed by the epidemiology, pathogenesis, clinical features, Category Health Conditions and Diseases Laurence-Moon Syndrome PATHOGENESIS 1. Background. first described by Laurence and Moon in 1866 and isa specific entity separate from the bardetbiedl syndrome. 2. Genetic Defect.  
    http://www.icondata.com/health/pedbase/files/LAURENCE.HTM
    
    Extractions: Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 12/23/94 A genetic disorder of unknown etiology characterized by progressive neurological, ophthalmologic, and endocrine manifestations resulting in a deteriorating handicapping condition. risk factors: M = F Arab population of Kuwait 1. Hypogonadotrophic Hypogonadism

55. Lund University, Doctoral Dissertation
    Title and subtitle LaurenceMoon-bardet-biedl syndrome. Keywords Laurence-Moon-Bardet-Biedlsyndrome, Alström syndrome, bardet-biedl syndrome.  
    http://www.lub.lu.se/cgi-bin/show_diss.pl?db=global&fname=med_81.html

56. Obesity-related Mendelian Disorders
    2p13p12. Macari 98. 209901, bardet-biedl syndrome 1 BBS1, 11q13, NA. 209900, Bardet-BiedlSyndrome 2 BBS2, 16q21. NA. 600151. bardet-biedl syndrome 3 BBS3, 3p13-p12, NA.  
    http://www.obesity.chair.ulaval.ca/mendelian.html
    
    Extractions: Ohta 99 Ulnar-Mammary Schinzel Syndrome ( UMS Bamshad 97 Thyroid Hormone Resistance Syndrome ( THRS THRB Behr 97 Autosomal Recessive Alstrom Syndrome ( Macari 98 Bardet-Biedl Syndrome 1 NA Bardet-Biedl Syndrome 2 NA Bardet-Biedl Syndrome 3 NA Bardet-Biedl Syndrome 4 Gorman 99 Bardet-Biedl Syndrome 5 Woods 99

57. Human Gene Glossary And Nomenclature
    B C, BBS1, bardetbiedl syndrome 1, 11q13. BBS2, bardet-biedl syndrome 2, 16q21.BBS3*, bardet-biedl syndrome 3, 3p. BBS4, bardet-biedl syndrome 4, 15q22.3-q23.  
    http://www.obesity.chair.ulaval.ca/glossary.html
    
    Extractions: Search: A B C D ... W Gene or Marker Name Location A ACH Achondroplasia acid phosphatase ADA adenosine deaminase adrenergic, alpha-2A-, receptor adrenergic, alpha-2B-, receptor adrenergic, beta-2-, receptor adrenergic, beta-3-, receptor AGS Angelman Syndrome with Obesity AGT angiotensinogen AHO Albright Hereditary Osteodystrophy Albright Hereditary Osteodystrophy 2 adenylate kinase-1 apolipoprotein A -IV apolipoprotein A II APOB apolipoprotein B APOD apolipoprotein D 3q27-qter ASIP agouti signaling protein ATPase, Na+/K+ transporting, alpha 1 polypeptide ATPase, Na+/K+ transporting, alpha 2 polypeptide ATPase, Na+/K+ transporting, beta 1 polypeptide B C Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 BF B-Factor , properdin BFLS Borjeson-Forssman-Lehman syndrome Core-binding factor , alpha unit 2 (MTG8) CCKBR cholecystokinin B receptor Carbohydrate-Deficient Glycoprotein Syndrome type Ia CD36 antigen (collagen type I receptor, thrombospondinreceptor)-like 1

58. IComm: File Not Found!
    bardetbiedl syndrome .. Laurence Moon Bardet Biedl SyndromeSupport Network http//www.kumc.edu/gec/support/laurmoon.html  
    http://www.icomm.ca/geneinfo/b.htm

59. Conditions And Diseases: Neurological Disorders: Brain Diseases: Bardet-Biedl Sy
    Conditions and Diseases Neurological Disorders Brain Diseasesbardetbiedl syndrome. See also Health Conditions and Diseases  
    http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis
    
    Extractions: Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us See also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders http://www.nutrisystem.com We have helped millions of people lose weight for more than 30 years. Lose up to 10 lbs. in your first month! The CaF Directory - Information about Laurence-moon-bardet-biedl syndrome, its symptoms and inheritance patterns.

60. RNIB Research Library Bibliography - Retinitis Pigmentosa (Including Laurence-Mo
    Retinitis Pigmentosa (Including LaurenceMoon-bardet-biedl syndrome) a selectbibliography for the layman. Laurence-Moon-bardet-biedl syndrome.  
    http://www.rnib.org.uk/wesupply/fctsheet/rpig.htm
    
    Extractions: Search RNIB site for: ARDEN, G. What is retinitis pigmentosa? Talking Sense , Winter 1986, BAIO, E. Young people with R.P. (retinitis pigmentosa): a short talk delivered at the branch chairmen's meeting of the British Retinitis Pigmentosa Society held in London on 24th April 1983. Dublin: RP Ireland - Fighting Blindness, 1983. Unpaged (18pp.). BARRON, S. Psychological problems of retinitis pigmentosa: [paper] presented at the third annual workshop of the National Retinitis Pigmentosa Foundation, New York, October 4, 1975. Dover, DE: The Author, 1975. 15pp. BAUSERMAN, C.M. Orientation and mobility for the retinitis pigmentosa student. Roanoke, VA: The Author, 1980. 18pp. Typescript. BERGSMA, D.R. Ophthalmologic aspects of Usher's syndrome. Baltimore, MD: National Retinitis Pigmentosa Foundation, n.d. [c.1973]. 9pp. BERSON, E.L. Retinitis pigmentosa: early diagnosis and some aspects of prevention.

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