Laurence-Moon-Biedl Syndrome » Medical Diagnosis And Advice Medical Diagnosis Advice » L » LaurenceMoon-Biedl syndrome MISCELLANEOUS.SYNONYMS. laurence-moon syndrome Bardet-Biedl syndrome http://www.htmdesigner.com/diag/L/medical-diagnosis-terms-Laurence_Moon_Biedl_sy
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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.
Extractions: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8) Synonyms and Source Vocabularies:
Laurence-Moon-Biedl Syndrome - Patient UK laurencemoon-Biedl syndrome - Patient UK. A directory of UK health, disease,illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001405/
Extractions: PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Previously known as: Laurence Moon Biedel Syndrome, Laurence-Moon Bardet-Biedl syndrome This genetic autosomal recessive disorder presents in childhood and is characterised by progressive neurological, ophthalmic and endocrine manifestations which deteriorate to cause eventual blindness and spastic paraplegia Presentation Hypogenitalism is present at birth (hypogonadotrophic hypogonadism noted postpubertally). Retinitis pigmentosa night blindness and progressive visual loss), mental retardation and ataxia become apparent during childhood. The progressive spastic paraplegia results in a bedridden state by early adulthood. Management There is no treatment for underlying condition. A multidisciplinary approach is required involving paediatrics, neurology, ophthalmology, endocrinology and genetic counselling This syndrome is distinct from the Bardet-Biedl syndrome because of the presence of paraplegia; and absence
Penn State Faculty Research Expertise Database (FRED) laurencemoon-Bardet-Biedl syndrome, Bardet Biedl syndrome. Laurence Moon BardetBiedl syndrome, syndrome, Bardet-Biedl. syndrome, laurence-moon-Bardet- http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D020788
Laurence-Moon, Syndrome : Sites Et Documents Francophones Translate this page laurence-moon, syndrome de Par Dr Aymé S (Orphanet - INSERM SC 11). Site éditeurOrphanet base de données sur les maladies rares et les médicaments http://www.chu-rouen.fr/ssf/pathol/laurencemoonsyndrome.html
Extractions: Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, sites internet, dysmorphologie, conseil génétique, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 17/09/2003].
Extractions: WWW Medical.WebEnds.com Laurence-Moon-Bardet-Biedl Syndrome; Bardet Biedl Syndrome; Laurence Moon Bardet Biedl Syndrome; Syndrome, Bardet-Biedl; Syndrome, Laurence-Moon-Bardet-Biedl An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY OBESITY MENTAL RETARDATION ; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME . (From J Med Genet 1997 Feb;34(2):92-8)
Laurence-Moon-Bardet-Biedl Syndrome - Healthfinder® The information on this page is provided for medical and healthcare professionalsinvolved in the care of LMBBS patients and also for parents or relatives http://mentalhealth.about.com/library/h/docs/bld04497.htm
Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Mental Health Resources newsletter! The information on this page is provided for 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. Keywords: Consumer Resources Genetics Laurence-Moon-Biedl Syndrome Patient Education
Extractions: Bardet-Biedl Syndrome Definition: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA POLYDACTYLY OBESITY MENTAL RETARDATION ; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME . (From J Med Genet 1997 Feb;34(2):92-8)
Laurence-Moon, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/laurencemoon.html
Extractions: Le syndrome de Laurence-Moon est un syndrome génétique autosomique récessif d'étiologie inconnue. Il est caractérisé par des manifestations neurologiques, ophtalmologiques et endocriniennes progressives provoquant une détérioration gravement handicapante. Les manifestions neurologiques incluent un retard mental et une ataxie qui conduit à une paraplégie spastique progressive chez l'adulte jeune. Les manifestations ophtalmologiques consistent en des taches rétiniennes dues à la finesse de la rétine ; celles-ci évoluent vers une atrophie optique entraînant une cécité. Un hypogénitalisme est présent dès la naissance. Il est lié à un hypogonadisme hypogonadotrope. La prise en charge tend à palier les déficits. Ce syndrome est plus fréquent dans la population arabe du Koweït. *Auteur : Equipe Editoriale d'Orphanet (septembre 2002)*. Signes de la maladie ANTITRAGUS ANORMAL OBESITE GENERALISEE POLYDACTYLIE DU MEMBRE SUPERIEUR RETARD MENTAL / PSYCHO-MOTEUR SYNDACTYLIE DES DOIGTS TRANSMISSION AUTOSOMIQUE RECESSIVE INSUFFISANCE RENALE MICROPENIS/VERGE PETITE PETITE TAILLE / NANISME SURDITE DE PERCEPTION TESTICULE ECTOPIE/CRYPTORCHIDIE ATAXIE / INCOORDINATION BRACHYCEPHALIE/OCCIPUT PLAT CARDIOPATHIE CONGENITALE CATARACTE DIPLEGIE/PARAPLEGIE/QUADRIPLEGIE EPICANTHUS FIBROSE HEPATIQUE CONGENITALE HYPERGLYCEMIE/DIABETE NON INS. DEP.
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:
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by WARBURG, M. Articles by FLINTER, F. Related Collections Genetics J Med Genet e46 ( December ) Bardet-Biedl and Cohen syndromes: differential diagnostic criteria Reply to letter E DITOR Fig 1 in the paper by Beales et al shows portraits of six patients with the Bardet-Biedl syndrome (BBS). Number 4, the lower left picture, has the facial appearance of the Cohen syndrome (CS) with apparent microcephaly, thick hair, coarse eyebrows, short philtrum, and prominent incisors. Since she is presented
Syndrome Of Bardet-Biedl laurencemoon-Biedl-Bardet s syndrome, can not be considered as such since inBardet-Biedl s syndrome does not exist paraplegia (paralysis) and in http://www.obesidad.net/english2002/disorder9.shtml
Extractions: Recommend this site to a friend or relative who may find it helpful BARDET-BIEDL'S SYNDROME Bardet-Biedl's syndrome is a hereditary disease that affects many parts of the body. Obesity, the pygmentary retinitis (night blindness and the progressive loss of the peripheral vision), the mental delay, the hypogonadism, the renal damage and the polydactylia (fingers extra in the feet), define the characteristics of Bardet-Biedl's syndrome. INHERITANCE Two forms have been identified: Bardet-Biedl's syndrome 1, which does not have relation with the chromosome 16. Bardet-Biedl's syndrome 2, that has relation with the chromosome 16. Bardet-Biedl's syndrome is transmitted genetically across the families by inheritance autosomic recessive. In this type of inheritance, both parents are called carriers, they have a gene of the syndrome paired with a normal gene. Each of his children have at the time a possibility of 25% (or an opportunity in four) of inheriting both Bardet-Biedl's genes (one of every father) necessary to cause this disease. The carriers are healthy because only they have a copy of the gene. At this moment, it is impossible to determine if someone is a carrier of Bardet-Biedl's syndrome but until the birth of an affected child.
Online And Offline Support: L People served Families dealing with Laurence Moon Bardet Biedl syndrome;Services provided laurencemoon-Biedl syndrome Network (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
Laurence-Moon-Bardet-Biedl Syndrome Network Home Page The purpose of this page is to raise public awareness of the LaurenceMoonBardet-Biedl syndrome. It will also serve as a place for parents of LMBBS http://mlmorris.com/lmbbs/
Search Result For "Laurence-Moon-Bardet- Biedl Syndrome(LMBBS)" NOAH pages containing laurencemoon-Bardet- Biedl syndrome(LMBBS) . Displaying 1-5of 338. Retinitis Pigmentosa The Eye Clinic and Retinitis Pigmentosa; http://www.noah-health.org/search/results.php?lang=1&keyword=Laurence-Moon-Barde
