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Alstrom syndrome
Alström syndrome is a rare genetic disorder. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 411 known cases in 42 countries. It was first described by Carl-Henry Alström in Sweden in 1959. Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms. Additional recommended knowledgeDiagnosisThe Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated the single gene (ALMS1) responsible for Alstrőm Syndrome. The gene is recessive; it must be passed from both parents for the syndrome to manifest. It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis. Early symptoms
Further symptoms
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Alstrom_syndrome". A list of authors is available in Wikipedia. |