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...... laurencemoon syndrome (LMS) is characterised by retinitis pigmentosa (more accuratelytermed rod-cone dystrophy), mental retardation, hypogenitalism and http://www.isgrd.umds.ac.uk/laurence/

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 History Eye signs Obesity Learning difficulties ... Genetic Advice Treatment Rod-Cone dystrophy Polydactyly Obesity Learning difficulties ... References and useful publications 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

2. Pediatric Database A definition of laurencemoon syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/LAURENCE.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 12/23/94 LAURENCE-MOON SYNDROME DEFINITION: A genetic disorder of unknown etiology characterized by progressive neurological, ophthalmologic, and endocrine manifestations resulting in a deteriorating handicapping condition. EPIDEMIOLOGY: incidence: rare age of onset: birth (hypogenitalia) risk factors: familial - autosomal recessive chrom.#: ? gene: ? M = F Arab population of Kuwait PATHOGENESIS: 1. Background first described by Laurence and Moon in 1866 and is a specific entity separate from the Bardet-Biedl Syndrome 2. Genetic Defect CLINICAL FEATURES: 1. Neurological Manifestations present in childhood mental retardation 2. Ophthalmologic Manifestations 1. Retinitis Pigmentosa retinal pigment accumulations progressing from the periphery to the central retina prominent macular involvement in some cases night blindness 3. Endocrine Manifestations hypogenitalism present at birth hypogonadotrophic hypogonadism noted postpubertal INVESTIGATIONS: 1. Endocrine 1. Hypogonadotrophic Hypogonadism

3. Laurence Moon Bardet Biedl Syndrome laurencemoon syndrome, Pediatric Database (PEDBASE); Laurence-Moon-Bardet-Biedl(LMBB), Senter for sjeldne sykdommer og syndromer Smågruppesenteret på http://www.kumc.edu/gec/support/laurmoon.html

Laurence Moon Bardet Biedl Syndrome Laurence Moon Bardet Biedl Syndrome Network Laurence-Moon-Bardet-Biedl Syndrome , Canada Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) , Molecular and Medical Genetics, Prince Philip Research Laboratories, Guy's Hospital London Laurence-Moon Syndrome , Pediatric Database (PEDBASE) Laurence-Moon-Bardet-Biedl (LMBB) , Senter for sjeldne sykdommer og syndromer Smågruppesenteret på Rikshospitalet Centre for Rare Disorders Laurence-Moon-Bardet-Biedl Society , United Kingdom Bardet-Biedl Laurence-Moon Syndrome , Belgium or Dutch LMBBS discussion group,(Laurence Moon Baardet-Beidl Syndrome) , Australia Syndrome de Laurence-Moon-Bardet-Biedl France Laurence-Moon Syndrome , Online Mendelian Inheritance in Man (OMIM) #245800 Bardet-Biedl Syndrome (BBS) , Online Mendelian Inheritance in Man (OMIM) Laurence Moon , signs of condition, Orphanet Laurence-Moon-Bardet-Biedl Syndrome , WideSmiles Also See: National organizations information on genetic conditions or birth defects Information for siblings and family members , genetic conditions Vision Impairment / Blindness Resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments

4. Laurence-Moon Syndrome Syndrome. laurencemoon syndrome. Summary. A syndrome of mental retardation, retinitis pigmentosa, hypogonadism, and http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome393.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Laurence-Moon syndrome Summary A syndrome of mental retardation, retinitis pigmentosa, hypogonadism, and spastic paraplegia. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients with Laurence and Moon had spastic paraplegia but no polydactyly and obesity which were the key elements in the Bardet and Biedl patients. Bardet-Biedl syndrome is a separate entity. Major Features Eyes: Pigmentary retinopathy. Nervous system: Spastic paraplegia. Urogenital system: Hypogonadism. Growth and development: Mental retardation. Heredity: The syndrome is familial and is transmitted as an autosomal recessive trait. View the Full Record U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 27 October 1999

5. Laurence-Moon-Bardet-Biedl Syndrome NORD Laurence Moon Syndrome laurence-moon syndrome is a rare inherited disorder characterized by diminished hormone http://www.familyvillage.wisc.edu/lib_lmbb.htm

Laurence-Moon-Bardet-Biedl Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Laurence Moon Bardet Biedl Syndrome" Who to Contact Laurence Moon Bardet Biedl Syndrome 124 Lincoln Avenue Purchase NY 10577 Where to Go to Chat with Others Sue McCoy (mmandm@ozramp.net.au) Runs an email support chat group for any interested persons; send email to her at the above address to join. Learn More About It Laurence Moon Syndrome from OMIM Laurence-Moon-Bardet-Biedl Syndrome Bardet-Biedl Syndrome, Type II Web Sites Laurence-Moon-Bardet-Biedl Syndrome Page Laurence-Moon-Bardet-Biedl Syndrome Laurence-Moon-Bardet-Biedl Network Home Page Back to [ K - L Family Village Home Library Coffee Shop ... Information Last Updated April 7, 1999 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_lmbb.htm

6. National Library Of Medicine A look at the former names of laurencemoon syndrome, a summary and a list of clinical features. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Laurence-Moon syndrome&am

7. Health Library - Laurence Moon Syndrome Laurence Moon Syndrome. Confusion exists in the medical literature regardingthe difference between laurencemoon syndrome and Bardet-Biedl Syndrome. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

8. Health Library - Laurence Moon Syndrome Laurence Moon Syndrome. Confusion exists in the medical literature regardingthe difference between laurencemoon syndrome and Bardet-Biedl Syndrome. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

9. Laurence Moon/Bardet Biedl Syndrome NORD Laurence Moon Syndrome laurence-moon syndrome is a rare inherited disordercharacterized by diminished hormone production by the testes or ovaries http://www.lowvision.org/laurence_moon.htm

Laurence Moon/ Bardet Biedl Syndrome LMBBS Home page 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. NORD - Laurence Moon Syndrome Laurence-Moon Syndrome is a rare inherited disorder characterized by diminished hormone production by the testes or ovaries (hypogonadism), progressive loss of vision (retinitis pigmentosa), mental retardation, and paralysis of the legs and lower part of the body accompanied by involuntary muscle contractions (spastic paraplegia). LMBBS Home page 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.

10. ORPHANET® : Laurence-Moon Syndrome Translate this page ORPHANET. ORPHANET database access. laurence-moon syndrome.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/laurence_moon.html

ORPHANET database access Laurence-Moon syndrome Direct access to details Alias : Home Page

11. Service Page - Pathologie Information DISEASE laurencemoon syndrome, CIM Q87.8, laurence-moon syndrome is more frequentin the Arab population of Kuwait. * author S. Aymé MD (September. 2001) *, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2377

12. Bardet-Biedl Syndrome (BBS) A summary of Bardet-Biedl syndrome and a list of major features.Category Health Conditions and Diseases Bardet-Biedl Syndrome...... syndrome. laurencemoon syndrome is a separate entity. Major Features,Eyes Pigmentary retinopathy. Hand and foot Polydactyly. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome048.html

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.

13. Laurence-Moon Bardet-Biedel Syndrome - Foundation Fighting Blindness BardetBiedel syndrome is often confused with laurence-moon syndrome. Laurence-Moonsyndrome is extremely rare; only a few case have been documented. http://www.blindness.org/laurence-moon-bardet-biedel-syndrome.asp

Macular Degeneration Retinitis Pigmentosa Usher Syndrome Stargardt Disease ... Laurence-Moon Bardet-Biedel Syndrome Bardet-Biedel syndrome is often referred to as Laurence-Moon Bardet-Biedel syndrome (correctly spelled Laurence-Moon Bardet Biedl ) or Laurence-Moon/Biedel syndrome. Bardet-Biedel 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-Biedel 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-Biedel syndrome is often referred to as Laurence-Moon Bardet-Biedel syndrome or Laurence-Moon/Biedel syndrome. The Foundation Fighting Blindness is a research foundation dedicated to finding the causes, treatments and cures for retinitis pigmentosa (RP), Usher syndrome, macular degeneration and other rare retinal degenerative diseases like Laurence-Moon Bardet-Biedel syndrome FFB Home Text Only Version Site Map ... Back to Top

14. Laurence Moon (Bardet Biedl) Syndrome (LMBBS) Laurence Moon (Bardet Biedl) Syndrome (LMBBS). LaurenceMoon-Bardet-Biedl Network;laurence-moon syndrome; LMBBS Home page; Laurence Moon Bardet Biedl Syndrome; http://www.bdid.com/lmbbs.htm

HOME Laurence Moon (Bardet Biedl) Syndrome (LMBBS) Bardet-Biedl Laurence-Moon Syndroom Laurence-Moon-Bardet-Biedl Syndrome Syndrome de Laurence-Moon-Bardet-Biedl Laurence-Moon-Bardet-Biedl Network ... Laurence-Moon-Bardet-Biedl Syndrome Also see Bardet Biedl Syndrome HOME

15. NORD - National Organization For Rare Disorders, Inc. Confusion exists in the medical literature regarding the differencebetween BardetBiedl Syndrome and laurence-moon syndrome. . http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Bardet Biedl

16. Débats Listesnof : Syndrome De Laurence-Moon-Bardet-Biedl Translate this page but that the patients of Laurence and Moon had a distinct disorder with paraplegiaand without polydactyly and obesity (see laurence-moon syndrome, 245800). http://g5d.chez.tiscali.fr/COCNet10/COCMED10/lsnofLBB.htm

sommaire Syndrome de Laurence-Moon-Bardet-Biedl Chers Amis Un conseil : http://www.healthgate.com/HealthGate/home.html Yannick LE MER Amicalement Chantal NOVEL Xavier ZANLONGHI Voir E.M.C. Ophtalmologie 21470 A 50, Les syndromes oculo-auditifs, page 12 Cordialement Georges LAROCHE Marc Abitbol avait fait une remarquable mise au point sur ces syndromes. Pourrait-il nous la redonner? ou notre webmaster? Alain BRON *209900 BARDET- BIEDL SYNDROME, TEXT This condition is characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism, and has incorrectly been called LMBB (Laurence-Moon-Bardet-Biedl) syndrome. Ammann (1970) pointed out that these features were present in the patients of Biedl (1922) and Bardet (1920), but that the patients of Laurence and Moon had a distinct disorder with paraplegia and without polydactyly and obesity (see Laurence-Moon syndrome, 245800). As indicated by Ammann's study, residual heterogeneity may exist even after the Laurence-Moon syndrome is separated. In Bedouin families in the Negev region of Israel, presumably the same kindreds as those studied by Kwitek-Black et al. (1993), Elbedour et al. (1994) performed echocardiographic evaluations of cardiac involvement in BBS. They stated that they found cardiac involvement in 50% of cases, justifying inclusion of echocardiographic examination in the clinical evaluation and follow-up of these patients. However, their table 1 gives echocardiographic abnormality in only 7 of 22 cases and these included 1 case of bicuspid aortic valve, 1 case of mild thickening of the interventricular septum, 1 case of 'moderate tricuspid regurgitation,' and 1 case of mild pulmonic valve stenosis. The occurrence of renal abnormality in 11 of the 22 patients on kidney ultrasonography was somewhat more impressive than the cardiac involvement.

17. Laurence-Moon Syndrome : Meddie Health Search Rate It. Pediatric Database A definition of laurencemoon syndrome followed by theepidemiology, pathogenesis, clinical features, investigations and management. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/La

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Laurence-Moon Syndrome ITEMS: LINKS: Laurence Moon Bardet Biedl Society Fully accessible site for people with LMBB, their families, friends, carers and interested professionals. Opinions, news, views, research, updates, and contact details. (Rating: 0.00 Votes: 0) Rate It Pediatric Database A definition of Laurence-Moon syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

18. Bardet-Biedl Laurence-Moon Syndroom/History The estimates for laurencemoon syndrome are much lower still. Learning disabilities.laurence-moon syndrome. * Spasticity (often progressive) or ataxia. http://www.angelfire.com/co3/PEKICH/BBLMS_history.html

top NL / ENG Bardet-Biedl Laurence-Moon Syndroom Home History Symptoms Treatment Aids Cause ... e-mail 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 1920’s 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.

19. LAURENCE-MOON SYNDROME laurencemoon syndrome - A syndrome of mental retardation, pigmentary retinopathy,hypogenitalism, and spastic paraplegia; transmitted with a autosomal http://www.mymedadvice.com/html/5/gls_2868.htm

LAURENCE-MOON SYNDROME - A syndrome of mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia; transmitted with a autosomal recessive inheritance pattern.

20. Health Library - Laurence Moon Syndrome Search. Laurence Moon Syndrome. Confusion exists in the medical literature regardingthe difference between laurencemoon syndrome and Bardet-Biedl Syndrome. http://yourhealth.stlukesonline.org/Library/HealthGuide/IllnessConditions/topic.

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