This image ( File : Owteen . jpg ) was recently added as an example of " A teenager with Bardet-Biedl syndrome " in the article on the genetic syndrome Bardet-Biedl syndrome.
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This image ( File : Owteen . jpg ) was recently added as an example of " A teenager with Bardet-Biedl syndrome " in the article on the genetic syndrome Bardet-Biedl syndrome.
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Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia ( also known as Kartagener Syndrome ), Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.
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Other diseases that may need to be distinguished from BFLS include Prader Willi syndrome, Coffin Lowry syndrome, Klinefelter syndrome, Wilson Turner syndrome, Bardet Biedl syndrome, Smith Fineman Myers syndrome ( Chudley-Lowry syndrome ), and Coffin Siris syndrome.
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Hirschsprung's disease can also present as part of a multisystem disorder, such as Down syndrome, Bardet-Biedl syndrome, Waardenburg-Shah syndrome, Mowat-Wilson syndrome, Goldberg-Shprintzen megacolon syndrome, cartilage-hair hypoplasia, multiple endocrine neoplasia type 2, Smith-Lemli-Opitz syndrome and congenital central hypoventilation syndrome.
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It is sometimes known by the abbreviation MKS . In infancy it can be difficult to distinguish between MKS and the related Bardet Biedl syndrome, as the more severe symptoms of the latter condition rarely materialise before adulthood.
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PCM1 forms a complex at the centrosome with disrupted-in-schizophrenia 1 ( DISC1 ) and Bardet-Biedl syndrome 4 protein ( BBS4 ), which provides a link between aberrant PCM1 and the abnormal cortical development associated with the pathology of schizophrenia.
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Foundation-funded scientists at institutions throughout the world conduct research for the entire spectrum of retinal degenerative diseases including : retinitis pigmentosa, macular degeneration, Usher syndrome, Stargardt disease, Best disease, choroideremia, retinoschisis, Leber's congenital amaurosis, Bardet-Biedl syndrome, cone dystrophy, cone-rod dystrophy, rod-cone dystrophy, achromatopsia, Refsum disease, and other rare retinal degenerative diseases.
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But in a study published in this week's journal Science, the Baylor researchers described patients suffering from the rare Bardet-Biedl syndrome, long considered a classic recessive disease, in which the signs of the disease do not occur unless two copies of the same gene are mutated and a single copy of another gene also is mutated.
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The first known case was reported by Laurence and Moon in 1866 at the Ophthalmic Hospital in South London . "'Laurence Moon Biedl Bardet syndrome "'is no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly or obesity, which are the key elements of the Bardet Biedl syndrome.
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