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?
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
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 1920s 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.
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.
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
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
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
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.
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.
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.
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
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.
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
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
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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.
