LMBBS Home Page London. LaurenceMoon-bardet-biedl syndrome (LMBBS). This same. They called it the Laurence-Moon-bardet-biedl syndrome (LMBBS). More http://www.isgrd.umds.ac.uk/laurence/
Extractions: Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) This page is aimed primarily at medical and health-care professionals involved in the care of LMBBS patients and also for parents or relatives wishing to know more about the syndrome and the implications for those affected. CONTENTS HISTORY rod-cone dystrophy ), mental retardation, hypogenitalism and spastic paraparesis. Bardet-Biedl syndrome (BBS) has as the main features RP (rod-cone dystrophy), obesity, postaxial polydactyly, learning disabilities and hypogenitalism (males). This latter subgroup represents by far the majority of published cases and is now the preferred term amongst the medical and scientific community. As there are many cases of overlap between the LMS and BBS we shall for the purposes of this publication make no distinction and therefore refer to LMBBS throughout. John Zachariah Laurence c.1870
Bardet-Biedl Syndrome (BBS) A summary of bardetbiedl syndrome and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome048.html
Extractions: Syndrome Bardet-Biedl syndrome (BBS) Summary A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. 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. Laurence-Moon-Biedl syndrome and 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 a separate entity. Major Features Eyes: Pigmentary retinopathy. Hand and foot: Polydactyly. 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.
Extractions: helpful? yes no Bardet-Biedl syndrome: BBS; Laurence-Moon-Bardet-Biedl syndrome The syndrome is a rare inherited condition which is variable in the way in which it presents. Characteristics are rod/cone dystrophy (atypical retinitis pigmentosa - a progressive eye condition which can lead to blindness (see Visual Impairment )); obesity (usually with an early onset and resistant to treatment); polydactyly (extra fingers and/or toes); hypogenitalism (underdeveloped genitals); mild to severe learning difficulties. Usually four out of these five features are required to make the diagnosis. In addition, there are other important characteristics which need to be taken into account: kidney malformations and renal dysfunction; developmental delay; speech difficulties; diabetes mellitus and, rarely, diabetes insipidus; hepatic fibrosis and other hormonal deficiencies. In the Middle-East and island communities such as Newfoundland, the condition is relatively common, occurring at rates of 1 in 13,500 of the population. In Europe and the UK the prevalence is much less common owing to lower consanguinity. The figure is probably around 1 in 100,000 of the population. Although BBS is not common it is certainly under diagnosed. As awareness of the condition increases, the number of people identified is growing every year.
LMBBS Home Page The cardinal manifestations of bardetbiedl syndrome, a form of Laurence-Moon-Biedl syndrome. OMIM*209900 bardet-biedl syndrome. OMIM Clinical Synopsis. http://www.isgrd.umds.ac.uk/laurence/laurence5.htm
Readers Digest Health bardetbiedl syndrome General information and resources. http://www.readersdigesthealth.com/kbase/nord/nord988.htm
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NORD - National Organization For Rare Disorders, Inc. General Discussion. bardetbiedl syndrome is a group of rare disorders inherited as literature regarding the difference between bardet-biedl syndrome and Laurence-Moon Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Bardet Biedl
Mary's Pages Raises public awareness of the LaurenceMoon bardet-biedl syndrome and serves as a place for parents of LMBBS children to meet and exchange ideas. http://www.geocities.com/HotSprings/Spa/1761/
Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Bardet-Biedl+Syndrome More results from www.nlm.nih.gov NORD National Organization for Rare Disorders, Inc.Bardet Biedl Syndrome. To purchase full-text report ($7.50) Copyright 1994, 1996, 2001, 2002 Synonyms of Bardet Biedl Syndrome Biedl-Bardet Syndrome. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Bardet-Biedl Syndrome
Laurence-Moon Bardet-Biedl Syndrome LaurenceMoon bardet-biedl syndrome. bardet-biedl syndrome is often referred to as Laurence-Moon bardet-biedl syndrome or Laurence-Moon/Biedl syndrome. http://www.blindness.org/laurence-moon-bardet-biedl-syndrome.asp
Extractions: Microsoft WebSpeak has been installed to read content on this site aloud. When you see this speaker icon, use your mouse to click on it and the wizard will be activated. Email Newsletter Sign up here for the latest research and science news, and FDA-approved clinical trials related to retinal degenerative diseases. Login Register Benefit Bardet-Biedl syndrome is often referred to as Laurence-Moon Bardet-Biedl syndrome or Laurence-Moon/Biedl syndrome. Bardet-Biedl syndrome is often confused with Laurence-Moon syndrome. Individuals with Laurence-Moon syndrome almost always experience neurologic problems but rarely polydactyly. Polydactyly is a defining feature of Bardet-Biedl syndrome, while neurologic problems almost never occur. Laurence-Moon syndrome is extremely rare; only a few case have been documented. Because of the similarity of these syndromes, Bardet-Biedl syndrome is often referred to as Laurence-Moon Bardet-Biedl syndrome or Laurence-Moon/Biedl syndrome.
Bardet-Biedl Syndrome bardetbiedl syndrome. bardet-biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals http://www.blindness.org/bardet-biedl-syndrome.asp
Extractions: Microsoft WebSpeak has been installed to read content on this site aloud. When you see this speaker icon, use your mouse to click on it and the wizard will be activated. Email Newsletter Sign up here for the latest research and science news, and FDA-approved clinical trials related to retinal degenerative diseases. Login Register Benefit Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals with Bardet-Biedl syndrome have a retinal degeneration similar to retinitis pigmentosa (RP). Clinical Description The diagnosis of Bardet-Biedl syndrome is usually confirmed in childhood when visual problems due to RP are discovered. The first symptom of RP is night blindness. Night blindness makes it difficult to see in low light levels. RP then causes progressive loss of peripheral (side) vision. Peripheral vision loss is often referred to as tunnel vision. Individuals with Bardet-Biedl syndrome also experience central vision loss during childhood or adolescence. RP symptoms progress rapidly and usually lead to severe visual impairment by early adulthood.
Laurence-Moon-Bardet-Biedl Syndrome Network Home Page Welcome to the LaurenceMoon-Bardet-Biedl Network Home Page. The purpose of this page is to raise public awareness of the Laurence-Moon bardet-biedl syndrome. http://mlmorris.com/lmbbs/
Extractions: Sabrina Parker Introduction Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet, and intellectual impairment. In an autosomal recessive disorder, both parents must be carriers of the defective gene and both must pass on the defect to the child in order for the child to be affected. If both parents carry the defective gene responsible for causing LMBBS, they have a 1 in 4 chance of having a child with the syndrome. In 1993, the gene responsible for LMBBS was located on chromosome 16q21 (type 2). Shortly thereafter, another gene on chromosome 11q13 (type 1) was identified. Since then, two others were found on chromosomes 3p12 (type 3) and 15q22 (type 4). The most common form of LMBBS is type 1 and the most rare form is type 3. It is expected, however, that another gene that causes the syndrome also exists because there are identified cases that have none of these four defects. The occurrence rate varies in different parts of the world. In regions such as Kuwait, the occurrence is 1 in 13,500 due to a high frequency of inter-family marriages. British studies, on the other hand, show the prevalence to be 1 in 160,000. While this syndrome is considered rare, it is suspected that there is a major problem with under-diagnosis. Features and Characteristics Following is a list of characteristics that have been seen in children with LMBBS. Not all children will exhibit all of these features:
Bardet Biedl Syndrome Bardet Biedl Syndrome. General Discussion. bardetbiedl syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. http://www.bchealthguide.org/kbase/nord/nord988.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Major features of these disorders may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes. Confusion exists in the medical literature regarding the difference between Bardet-Biedl Syndrome and Laurence-Moon Syndrome. The Bardet-Biedl Syndromes are also frequently characterized by abnormalities of the numbers of fingers and/or toes (digits) as well as obesity that is often limited to the trunk. Digital abnormalities may include extra fingers and/or toes (polydactyly), webbing of certain digits (syndactyly) (characteristically the second and third toes), and/or abnormal shortness of the digits (brachydactyly) compared to the palm length. In addition, the feet tend to be unusually short, broad, and flat, with no arch.
Bardet-Biedl, Syndrome : Sites Et Documents Francophones Translate this page Bardet-Biedl, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant le mot-clé Bardet-Biedl, syndrome bardet-biedl syndrome http://www.chu-rouen.fr/ssf/pathol/bardetbiedlsyndrome.html
GeneReviews: Bardet-Biedl Syndrome Your browser does not support HTML frames so you must view bardetbiedl syndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/bbs/
