Bardet-Biedl Syndrome / McKusick-Kaufman Syndrome - HUM-MOLGEN We are interested in locating families with either bardetbiedl syndrome or McKusick-Kaufman Syndrome for continuing linkage investigations and mutational http://www.hum-molgen.de/bb/Forum2/HTML/000048.html
Extractions: Member posted 01-25-2004 06:46 PM Our daughter is 10 years old and has bardet-biedl syndrome. and current information that you may offer us would be greatly welcomed. I have been reading bout this syndrome, I am at a lost in all of this. We live in an area where it seems the the only thing the doctors seem to only know about the syndrome is what we tell them or what they look up.It is very furstrating at times because it's like they think we don't know what we are talking about or if what we say she has in totally wrong. until we show them her medicial records. With her being at this age now where there are more questions asked by her. And the possiblity of health changes we are looking to new help and support.
HHMI News: First Bardet-Biedl Syndrome Gene Identified First bardetbiedl syndrome Gene Identified. It will be interesting to see if this gene is involved in more common disorders, such http://www.hhmi.org/news/sheffield3.html
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
Extractions: Information courtesy of "The Foundation for Fighting Blindness" Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals with this syndrome have a retinal degeneration similar to retinitis pigmentosa (RP). 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 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.
Scripta Academica Lundensis Dissertations From Home Search. LaurenceMoon-bardet-biedl syndrome. Riise R, Tornqvist K, Lofterød B, Heiberg A, Knudtzon J. Growth in the Laurence-Moon-bardet-biedl syndrome. http://theses.lub.lu.se/postgrad/search.tkl?field_query1=pubid&query1=med_81&rec
Conditions And Diseases - Bardet-Biedl Syndrome Top Links bardetbiedl syndrome Web Site Links. National Library of Medicine - A summary of bardet-biedl syndrome and a list of major features. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Neurological
Extractions: UMDS: LMBBS Information for health-care professionals involved in the care of Laurence-Moon-Bardet-Biedl Syndrome patients and for parents or relatives seeking education on the syndrome. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.
Extractions: MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
Retina International's Scientific Newsletter - BBS2 Gene Mutations Retina International s Scientific Newsletter. Mutation Database Mutations of the bardetbiedl syndrome Type 2 Gene (BBS2). Recent update from 12.03.2003 http://www.retina-international.org/sci-news/bbs2mut.htm
Penn State Faculty Research Expertise Database (FRED) Faculty Research Expertise Database. bardetbiedl syndrome. Related Terms, Laurence-Moon-bardet-biedl syndrome, Bardet Biedl Syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D020788
Nature Publishing Group with this Brief Communications. Please click here to view. Mutations in MKKS cause bardetbiedl syndrome Anne M. Slavotinek 1 , Edwin http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n1/full/ng0900_1
Correction: Mutations In MKKS Cause Bardet-Biedl Syndrome no. 2 p 193 Correction Mutations in MKKS cause bardetbiedl syndrome AM.Slavotinek et al. Nature Genet. 26, 1516 (2001). Two http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v28/n2/full/ng0601_1
