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.
Bardet-Biedl Syndrome (BBS) A summary of bardetbiedl syndrome and a list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Bardet-Bie Laurence Moon Bardet Biedl SyndromeLauurence Moon Bardet Biedl Syndrome Resources, international support groups,clinics, genetic counselors and geneticists. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Bardet-Biedl Syndrome
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UMDS LMBBS Information for healthcare professionals involved in the care of Laurence-Moon-bardet-biedl syndrome patients and for parents or relatives seeking http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
NORD - National Organization For Rare Disorders, Inc. the difference between LaurenceMoon Syndrome and bardet-biedl syndrome.Some researchers believe that bardet-biedl syndrome is a subdivision of http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Laurence Moon
Extractions: Verified by National Institutes of Health Clinical Center (CC) November 30, 2004 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will evaluate patients with a rare inherited condition called Bardet-Biedl syndrome . The purpose of the study is to learn more about the genetics and clinical characteristics of this disorder. Patients may have the following problems: polydactyly (extra fingers and toes); retinal dystrophy (changes in the retina that may lead to vision problems, including blindness); obesity and diabetes (overweight and high blood sugar due to failure of body organs to respond to insulin); cognitive dysfunction (difficulties with learning and understanding); hypogenitalism (decreased functioning of the ovaries in women and the testes in men); kidney anomalies (changes in the structure or function of the kidneys); heart disease; and hepatic fibrosis (liver disease). Patients with Bardet-Biedl syndrome may be eligible for this study. First-degree relatives will also be enrolled for certain tests and procedures. Candidates are screened with a review of their medical records, laboratory tests, and x-rays.
Laurence Moon/Bardet Biedl Syndrome Laurence Moon/ Bardet Biedl Syndrome LMBBS Home page This page is aimed primarily at medical and healthcare professionals involved in the care http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
National Neurovision Research Institute Click Here For More bardetbiedl syndrome is a complex disorder that affects many parts of the body The diagnosis of bardet-biedl syndrome is usually confirmed in childhood http://www.blindness.org/visiondisorders/causes.asp?type=27
The Foundation Fighting Blindess - Bardet-Biedl Syndrome bardetbiedl syndrome is a rare, inherited disorder that causes a number of In bardet-biedl syndrome, central vision may become blurry as the first http://www.ffb.ca/disease_bardet-biedl.php?hc=0
Clinical Trial Genetics And Clinical Characteristics Of What's New About Genetics and Clinical Characteristics of bardetbiedl syndrome This study is currently recruiting patients. Sponsored by http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Cellular Problems Found Behind Complex Obesity Syndrome bardetbiedl syndrome (BBS), characterized by obesity, learning disabilities and eye and kidney problems, is caused by genetic mutations in the BBS http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
