Health Library - Bardet Biedl Syndrome. None. General Discussion. bardetbiedl syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
Extractions: Bardet-Biedl Syndrome ... Brain Diseases : Bardet-Biedl Syndrome Analysis of Bardet-Biedl syndrome 1 - Analysis of Bardet-Biedl syndrome 1, G2D Home. GO TO: CHROMOSOMAL REGION Disease mapped: Bardet-Biedl syndrome 1 Chromosome: 11 Genomic position start-stop Analysis of Bardet-Biedl syndrome 2 - Analysis of Bardet-Biedl syndrome 2, G2D Home. GO TO: CHROMOSOMAL REGION Disease mapped: Bardet-Biedl syndrome 2 Chromosome: 16 Genomic position start-stop - Bardet-Biedl syndrome - Two case reports. Keywords: Bardet-Biedl syndrome; Retinitis pigmentosa; Choroid/pathology; Child; Adult; Case report; Literature review. Bardet â biedl syndrome - Medical Professionals only, registration required. Bardet â biedl syndrome,. Print this article, (Georges Bardet, born 1885, French Bardet Biedl Syndrome - Bardet Biedl Syndrome. General Discussion. Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Bardet Biedl Syndrome (BBS) - Links to information and resources for Laurence Moon Syndrome/Bardet Biedl Syndrome, a genetic disorder of chromosomes 16, 3, and 15.
Neurological Disorders, Brain Diseases, Bardet-Biedl Syndrome Submit Your Site to the bardetbiedl syndrome category. Sponsored bardet-biedl syndrome Sites. Submit Your Site to the bardet-biedl syndrome category. http://www.iseekhealth.com/bardet-biedl_syndrome-1937.php
Extractions: Bardet-Biedl Syndrome,Laurence-Moon/Bardet-Biedl,Biedl-Bardet,Adipogenital Retinitis Pigmentosa Polydactyly,Adreno-Retinitis Pigmentosa-Polydactyly Syndrome,Bardet-Biedl Syndrome,Laurence-Moon/Bardet-Biedl,Biedl-Bardet,Adipogenital Retinitis Pigmentosa Polydactyly,Adreno-Retinitis Pigmentosa-Polydactyly Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX Bardet-Biedl Syndrome is a rare disorder inherited as an autosomal recessive genetic trait. Major symptoms of this disorder may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, degeneration of the retinas of the eyes, kidney abnormalities and/or abnormal fingers and/or toes.
TOXOPLASMOSIS OF THE EYE Medical information on bardetbiedl syndrome. What we see is made in the brain from signals given to it by the eyes. What Is bardet-biedl syndrome? http://www.ssc.mhie.ac.uk/eyeconds/Bardet.htm
Extractions: Scottish Sensory Centre Medical information on Bardet-Biedl Syndrome For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this information is not for This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.
Bardet-Biedl Syndrome Information Diseases Database bardetbiedl syndrome may cause or feature Medical information linksbardet-biedl syndrome specific sites. Medical dictionary, library and http://www.diseasesdatabase.com/ddb7286.htm
Bardet-Biedl Syndrome (BBS) bardetbiedl syndrome (BBS), What causes bardet-biedl syndrome? bardet-biedl syndrome 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 - General Practice Notebook bardetbiedl syndrome. characterised by retinal dystrophy, hypogonadism, reduced IQ, obesity (+/- polydactyly) plus renal abnormalities http://www.gpnotebook.co.uk/cache/-1429209021.htm
The Foundation Fighting Blindness - Canada bardetbiedl syndrome, Printer Friendly. What is bardet-biedl syndrome? In bardet-biedl syndrome, central vision may become blurry as the first symptom. http://www.ffb.ca/disease_bardet-biedl.php?hc=1
The Turkish Journal Of Pediatrics bardetbiedl syndrome associated with vaginal atresia a case report. Sema Keywords bardet-biedl syndrome, vaginal atresia. Summary. This http://tjp.dergisi.org/text.php3?id=88
Bardet-Biedl (syndrome De) Translate this page Bardet-Biedl (syndrome de). Voir également allèle, locus. En Anglais bardet-biedl syndrome. Synonyme Laurence-Biedl (syndrome http://www.vulgaris-medical.net/textb/bardet.html
Extractions: Des chercheurs ont montré que le syndrome de Bardet Biedl n'est pas causé par la mutation d'un seul gène (zone précise située sur un chromosome à l'origine des ordres pour la fabrication des protéines de la cellule) mais nécessite la mutation de deux gènes, de deux allèles d'un même gène et un autre gène. Un allèle est chacun des deux gènes d'une paire de chromosomes. Leur emplacement, que l'on appelle locus (au pluriel loci), est identique sur chacun de ces deux chromosomes et ils possèdent tous les deux la même fonction. Néanmoins, chaque allèle exerce cette fonction d'une manière différente. 3 gènes SBB ont été identifiés (SBB 2, SBB 6, est SBB 4) ainsi que trois autres loci SBB. Les conclusions d'un chercheur du nom de Katsanis et ses collaborateurs (Baylor College of medicine Houston) propose que le syndrome SBB pourrait ne pas être un trouble récessif causé par un gène unique mais nécessitant trois allèles.
Bardet-Biedl Syndrome The New Health Directory, Directory, Home Health Conditions and Diseases Neurological Disorders Brain Diseases bardetbiedl syndrome (6) See Also http://www.thenewhealthfind.com/Health/ConditionsandDiseases/NeurologicalDisorde
:: Ez2Find :: Bardet-Biedl Syndrome Guide bardetbiedl syndrome, Global Metasearch Any Language Guides, bardet-biedl syndrome. ez2Find Home Directory Health Conditions http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode Guides Bardet-Biedl Syndrome Web Sites The CaF Directory [Site Info] [Translate] [Open New Window] Laurence-Moon-Bardet-Biedl Syndrome Network [Site Info] [Translate] [Open New Window] Raises public awareness of the Laurence-Moon Bardet-Biedl syndrome and serves as a place for parents of LMBBS children to meet and exchange ideas. URL: http://www.geocities.com/HotSprings/Spa/1761/
Online And Offline Support: L Website http//www.geocities.com/HotSprings/9308/. LaurenceMoon-bardet-biedl syndrome. Laurence Moon Bardet Biedl Syndrome (United States). http://www.widesmiles.org/support/l.html
Extractions: L Langer-Giedion Syndrome Langer-Giedion Syndrome Association Louise Kinross Email address: lgsa@geocities.com Website: http://www.geocities.com/HotSprings/9308/ Laurence-Moon-Bardet-Biedl Syndrome Please note: Laurence-Moon-Bardet-Biedl Syndrome includes specific facial characteristics that do not require reconstructive surgery. The LMBBS Society (United Kingdom) Laurence Moon Bardet Biedl Syndrome (United States) People served: Families dealing with Laurence Moon Bardet Biedl Syndrome Services provided: Support and information Address: 124 Lincoln Avenue, Purchase NY 10577
Extractions: This article has been cited by other articles: SHEFFIELD, V. C. (2004). Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome. Pediatr Res [Abstract] [Full Text] Katsanis, N. (2004). The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet [Abstract] [Full Text] Rahman, P., Jones, A., Curtis, J., Bartlett, S., Peddle, L., Fernandez, B. A., Freimer, N. B. (2003). The Newfoundland population: a unique resource for genetic investigation of complex diseases. Hum Mol Genet [Abstract] [Full Text] Badano, J. L., Kim, J. C., Hoskins, B. E., Lewis, R. A., Ansley, S. J., Cutler, D. J., Castellan, C., Beales, P. L., Leroux, M. R., Katsanis, N. (2003). Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Extractions: pa@bcm.tmc.edu Researchers identify first gene responsible for Bardet-Biedl Syndrome HOUSTON(Sept. 1, 2000)The first gene linked to a complex disorder called Bardet-Biedl syndrome could provide clues to health problems in the general population, including obesity, kidney disease, blindness, and mental retardation. In the September issue of the scientific journal Nature Genetics , an international team of investigators, led by Baylor College of Medicine's Drs. Nicholas Katsanis, Richard A. Lewis and James R. Lupski, identify the first of at least six genes responsible for the syndrome. BBS is a rare medical condition initially characterized by extra fingers and toes, profound weight gain as early as 6 to 7 months of age, and vision problems by age 6 or 7. "Finding the genetic cause of BBS has been extremely challenging," said Katsanis, with the department of molecular and human genetics. "Although 5 BBS loci, or locations of a gene within the human genome, have been reported, we had been unable to identify a specific gene." After years of research, identification of the gene eluded researchers until the recent announcement of a gene responsible for McKursick-Kaufman Syndrome, another rare disorder that shares a number of similarities with BBS.
