LMBBS Home Page Information for health-care professionals involved in the care of Laurence-Moon-bardet-biedl syndrome Category Health Conditions and Diseases bardet-biedl syndrome London. LaurenceMoon-bardet-biedl syndrome (LMBBS). This same. Theycalled 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.
Laurence-Moon-Bardet-Biedl Syndrome Network Home Page Raises public awareness of the Laurence-Moon bardet-biedl syndrome and serves as a place for parents Category Health Conditions and Diseases bardet-biedl syndromeWelcome to the LaurenceMoon-Bardet-Biedl Network Home Page. The purpose of thispage is to raise public awareness of the Laurence-Moon bardet-biedl syndrome. http://www.geocities.com/HotSprings/Spa/1761/
Extractions: printer friendly BARDET-BIEDL SYNDROME home more about us in your area conditions information ... how you can help search this site 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.
Laurence-Moon-Bardet-Biedl Syndrome Families of children with LaurenceMoon-Bardet-Beidl syndrome will find support-group information and technical articles. http://www.familyvillage.wisc.edu/lib_lmbb.htm
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:
LMBBS Home Page The cardinal manifestations of bardetbiedl syndrome, a form of Laurence-Moon-Biedlsyndrome. New England Journal of Medicine 1989;3211002-1009. http://www.isgrd.umds.ac.uk/laurence/laurence5.htm
Rd.com: Health Channel bardetbiedl syndrome General information and resources. http://www.readersdigesthealth.com/kbase/nord/nord988.htm
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Clinical Information LaurenceMoon-bardet-biedl syndrome. There is currently a support networkfor those affected by Laurence-Moon-bardet-biedl syndrome. http://www.geocities.com/HotSprings/Spa/1761/clinical.html
Extractions: Bardet-Biedl syndrome is a complex disorder that involves many parts of the body. Individuals with the disorder have retinal degeneration similar to that caused by retinitis pigmentosa and may have many other characteristic symptoms. The abstracts that are listed are for the parent or individual to become more familiar with the many aspects of Laurence-Moon-Bardet-Biedl syndrome.
Bardet-Biedl Syndrome Disease bardetbiedl syndrome. OMIM number 209900 http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/785.html
Extractions: Disease : Bardet-Biedl syndrome OMIM number : Body System : Miscellaneous disorder Type : Inheritance pattern : AR Incidence/prevalence : I Population surveyed : Kuwait (Jahra, Bedouin) Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : Frequency figure for females : Method (direct/indirect) : Reference : Teebi AS, Farag TI. Genetic disorders among Arab populations. Oxford monographs on medical genetics. Oxford: Oxford University Press, no.30, 1997. Comments :
Extractions: Stargardt Disease ... 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. In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome . A diagnosis of Bardet-Biedl syndrome is usually first suspected when a child is born with polydactyly. Subsequent RP symptoms and obesity confirm the diagnosis. Extra fingers and toes are usually removed in infancy or early childhood. Slight webbing (extra skin) between fingers and between toes is also common. Most individuals have short, broad feet as well. Obesity may be present by childhood and is usually limited to the trunk of the body. Many individuals are also shorter than average.
Extractions: It will be interesting to see if this gene is involved in more common disorders, such as diabetes, said HHMI investigator Val C. Sheffield. Researchers have pinpointed a gene mutation that causes Bardet-Biedl syndrome (BBS), a rare genetic disorder that can lead to mental retardation. "BBS is a relatively rare disorder, but it has an interesting constellation of features, including obesity, mental retardation, polydactyly [additional digits], genital abnormalities and retinitis pigmentosa, which can lead to blindness," said Val C. Sheffield of the Howard Hughes Medical Institute at the University of Iowa. "One reason we are studying BBS is that it might give insight into obesity and other common disorders." The discovery by Anne M. Slavotinek and Leslie G. Biesecker at the National Human Genome Research Institutes, Sheffield and colleagues at the University of Iowa and a number of other institutions is reported in the September 2000 issue of the journal
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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.com/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.