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         Bardet-biedl Syndrome:     more detail
  1. Biochemists focus on BBS.(Michel Leroux and Oliver Blacque's research on Bardet-Biedl Syndrome ): An article from: Canadian Chemical News
  2. Bardet-Biedl Syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Avis Gibons, 2005
  3. Maladie Du Segment Postérieur: Dégénérescence Maculaire Liée à L'âge, Uvéite, Syndrome de Bardet-Biedl, Rétinite Pigmentaire (French Edition)
  4. The (Laurence Moon) Bardet Biedl syndrome (Van Gorcum's medical collection, no. 207) by W Stiggelbout, 1969

1. 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
Division of Molecular and Medical Genetics
Prince Philip Research Laboratories
Guy's Hospital London

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

2. Bardet-Biedl Syndrome (BBS)
A summary of bardetbiedl syndrome and a list of major features.
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
View the Full Record
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.

3. 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 syndrome......Welcome to the LaurenceMoon-Bardet-Biedl Network Home Page. The purpose of thispage is to raise public awareness of the Laurence-Moon bardet-biedl syndrome.
Welcome to the
Laurence-Moon-Bardet-Biedl Network
Home Page
The purpose of this page is to raise public awareness of the Laurence-Moon Bardet-Biedl syndrome. It will also serve as a place for parents of LMBBS children to meet and exchange ideas.
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4. The Contact A Family Directory - BARDET-BIEDL SYNDROME
Information about Laurencemoon-bardet-biedl syndrome, its symptoms and inheritance patterns.
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.

5. Laurence-Moon-Bardet-Biedl Syndrome
Families of children with LaurenceMoon-Bardet-Beidl syndrome will find support-group information and technical articles.
Laurence-Moon-Bardet-Biedl Syndrome
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Laurence Moon Bardet Biedl Syndrome
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6. Special Child: Disorder Zone Archives - Laurence-Moon-Bardet-Biedl Syndrome
page is to raise public awareness of the LaurenceMoon bardet-biedl syndrome. It will also serve as a place for parents
Disorder Zone
Archives Laurence-Moon-Bardet-Biedl Syndrome
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:

7. Bardet-biedl, Syndrome : Sites Et Documents Francophones
Translate this page Bardet-biedl, Syndrome. Menu général CISMeF. Arborescence(s) du thesaurusMeSH contenant le mot-clé Bardet-Biedl, syndrome bardet-biedl syndrome
Bardet-biedl, Syndrome Menu général CISMeF Synonyme(s) CISMeF Bardet-Biedl type 1, syndrome de ; Bardet-Biedl type 2, syndrome de ; Bardet-Biedl type 3, syndrome de ; Bardet-Biedl type 4, syndrome de ; syndrome de Mac Kusick-Kaufmann .
Arborescence(s) Bardet-Biedl, syndrome Bardet-Biedl syndrome
maladies et malformations congénitales, héréditaires et néonatales
système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter Ou consulter ci-dessous une sélection des principales ressources :
Qualificatifs : guide ressources
  • Bardet-Biedl, syndrome de - maladie(s) incluse(s) : Bardet-Biedl type 1, syndrome de ; type 2 ; type 3 ; type 4
    [Par Pr Bonneau D.
    Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 19/12/2000].

8. LMBBS Home Page
The cardinal manifestations of bardetbiedl syndrome, a form of Laurence-Moon-Biedlsyndrome. New England Journal of Medicine 1989;3211002-1009.
Spring Grove
Loudhams Wood Lane
Chalfont St Giles
Bucks HP8 4AR
Tel: 01494 764924
British Retinitis Pigmentosa Society
PO Box 350
Buckingham MK18 5EL
Tel: +44 1280 860363
Fax: +44 1280 860515 Royal National Institute for the Blind 224 Great Portland Street London W1N 6AA Tel: +44 171 388 1266 Fax: +44 171 388 2034 Genetic Interest Group (GIG) Farringdon Point 29-35 Farringdon Road London EC1M 3JB Tel: +44 171 430 0090 Fax: +44 171 430 0092 Contact A Family 170 Tottenham Court Road London W1P 0HA Tel: +44 171 383 3555 Fax: +44 171 383 0259 Obesity Research Centres: Dr. Peter Kopelman MD FRCP Obesity Research Centre Medical Unit 5th Floor Alexandra Wing Royal London Hospital Whitechapel London E1 1BB Tel: +44 171 377 7696 Fax: +44 171 377 7636 Ms. Clare Grace M.Sc. (Dietician) Obesity Research Centre Medical Unit 5th Floor Alexandra Wing Royal London Hospital Whitechapel London E1 1BB Tel: +44 171 377 7420 Fax: +44 171 377 7636 Dr. Nick Finer MD FRCP

9. Health Channel
bardetbiedl syndrome General information and resources.
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10. Clinical Information
LaurenceMoon-bardet-biedl syndrome. There is currently a support networkfor those affected by Laurence-Moon-bardet-biedl syndrome.
Laurence-Moon-Bardet-Biedl Syndrome
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.
If you have questions concerning the information you find please print the abstract and take it with you to your doctor!
The information he/she needs to obtain a complete article is on the print out.
Bardet-Biedl type 1
Bardet-Biedl type 2

Bardet-Biedl type 3

Bardet-Biedl type 4
Additional Links
There is currently a support network for those affected by Laurence-Moon-Bardet-Biedl syndrome. Please contact:
Mary Morris
100 Van Buren Ave.
Biloxi, MS 39531
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11. Bardet-Biedl Syndrome
Disease bardetbiedl syndrome. OMIM number 209900
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 :

12. Macular Degeneration, Retinitis Pigmentosa, Stargardt, Usher Syndrome : : Founda
Printer Friendly Version bardetbiedl syndrome, bardet-biedl syndrome is a complexdisorder that affects many parts of the body including the retina.

13. Bardet-Biedl Syndrome - Foundation Fighting Blindness
bardetbiedl syndrome. bardet-biedl syndrome is a complex disorder thataffects many parts of the body including the retina. Individuals
Macular Degeneration
Retinitis Pigmentosa

Usher Syndrome

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.

14. HONselect - Bardet-Biedl Syndrome
English bardetbiedl syndrome, - Laurence-Moon-bardet-biedl syndrome - BardetBiedl Syndrome - Laurence Moon Bardet Biedl Syndrome - Syndrome, Bardet-Biedl
List of rare diseases: English Deutsch
MeSH term:
Accepted terms:
English: Bardet-Biedl Syndrome - Laurence-Moon-Bardet-Biedl Syndrome
- Bardet Biedl Syndrome
- Laurence Moon Bardet Biedl Syndrome
- Syndrome, Bardet-Biedl
- Syndrome, Laurence-Moon-Bardet-Biedl
Français: BARDET-BIEDL, SYNDROME Deutsch: Bardet-Biedl-Syndrom - Geistige Behinderung
- Laurence-Moon-Bardet-Biedl-Syndrom Español: SINDROME DE BARDET-BIEDL - SINDROME DE LAURENCE-MOON-BARDET-BIEDL Português: SINDROME DE BARDET-BIEDL - SINDROME DE LAURENCE-MOON-BARDET-BIEDL HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter Last modified: Thu Jul 25 2002

15. HHMI News: First Bardet-Biedl Syndrome Gene Identified
First bardetbiedl syndrome Gene Identified, It will be interestingto see if this gene is involved in more common disorders, such



ALSO OF INTEREST Photoreceptor Gene Mutation Discovered Inherited Deafness Studies May Affect Genetic Counseling Glaucoma and Birth Defects

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First Bardet-Biedl Syndrome Gene Identified
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

16. Special Child: Disorder Zone Archives
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17. Bardet-Biedl (syndrome De)
Translate this page Bardet-Biedl (syndrome de). Voir également allèle, locus. En Anglais bardet-biedl syndrome. Synonyme Laurence-Biedl (syndrome
Bardet-Biedl (syndrome de) Voir également allèle, locus. En Anglais : Bardet-Biedl syndrome. Synonyme : Laurence-Biedl (syndrome de), Laurence-Moon-Biedl-Bardet (syndrome de). De nature héréditaire ce syndrome comprend :
Une obésité
Un retard mental
Une rétinite pigmentaire (inflammation de la rétine)
Des problèmes génitaux
Une polydactylie (présence de doigts surnuméraires)
Des problèmes neurologiques (rarement)
Des anomalies cardiaques (rarement)
Des anomalies rénales (rarement)
Il est transmis selon le type autosomique récessif : les 2 parents doivent être porteurs du gène (localisé sur un chromosome non sexuel) pour que l'enfant développe la maladie.
Mise à jour octobre 2001 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.

18. Laurence Moon (Bardet Biedl) Syndrome (LMBBS)
Laurence Moon (Bardet Biedl) Syndrome (LMBBS). BardetBiedl Laurence-Moon Syndroom;Laurence-Moon-bardet-biedl syndrome; Syndrome de Laurence-Moon-Bardet-Biedl;

Laurence Moon (Bardet Biedl) Syndrome (LMBBS)


19. Bardet Biedl Syndrome
HOME Bardet Biedl Syndrome. Bardet Biedl Syndrome (Has Photos); BardetBiedlSyndrome; bardet-biedl syndrome; Also see Laurence Moon Bardet Biedl Syndrome;

Bardet Biedl Syndrome

20. Laurence-Moon-Bardet-Biedl Syndrome. Clinical,
Title LaurenceMoon-bardet-biedl syndrome. Clinical, electrophysiologicaland genetic aspects. Authors Riise, MD Ruth. Year 1997.

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