{"id":4194,"date":"2021-10-29T04:46:32","date_gmt":"2021-10-29T04:46:32","guid":{"rendered":"https:\/\/sdsdeutschland.de\/?page_id=4194"},"modified":"2025-05-30T15:35:40","modified_gmt":"2025-05-30T13:35:40","slug":"sds","status":"publish","type":"page","link":"https:\/\/sdsdeutschland.de\/en\/sds\/","title":{"rendered":"THE SYNDROME"},"content":{"rendered":"

THE SHWACHMAN DIAMOND SYNDROME<\/h1><\/div>
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Shwachman-Diamond syndrome (SDS) is a very rare, congenital genetic disorder (incidence: 1:75,000) and is inherited in an autosomal recessive manner. The parents are carriers and are usually not affected themselves.<\/p>\n

Each parent has the same \u00b4spelling error\u00b4 on the same gene, which comes together with a chance of 25% when the child is born.<\/p>\n

To meet someone in life who has the same gene in them, to father a child with them, with a 25% chance of producing the syndrome, is about like winning the lottery.<\/p>\n<\/div>\n

Further information for your treating physicians (\u00a9 kinderblutkrankheiten.de) can be found here<\/strong>.<\/a><\/p>\n

You can find a collection of sources for ADEK individual prescriptions here<\/strong>.<\/a><\/p>\n<\/div>\n<\/div><\/div><\/div>

The Disease<\/h2><\/div>
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Discovered 1964 by Bodian and colleagues and in the same year first described by Shwachman and Diamond, the Syndrome is one of the little-researched diseases.<\/p>\n

The disease is characterized already in childhood by:<\/p>\n

\u2022 Disorder of bone marrow, hematopoiesis<\/p>\n

\u2022 Lack of formation of digestive enzymes in the pancreas<\/p>\n

\u2022 Increased risk of developing MDS or leukemia with advancing age<\/p>\n<\/div>\n<\/div>\n<\/div><\/div><\/div>

Other features may include:<\/h2><\/div>
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