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Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome

Contact: Genetic Alliance Australia
Tel: 61 2 9295 8359
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More info: C/- The Garvan Institute of Medical Research Level 6, 384 Victoria St Darlinghurst NSW 2010
About: Shwachman syndrome is a genetic condition with multiple and varied symptoms. The condition is typically characterised by signs of insufficient absorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells. Additional characteristics may include short stature; abnormal bone development of the rib cage, bones in the arms or legs, and liver problems. The condition is highly variable and affected people may have all or some of these features. The pattern of inheritance of Shwachman syndrome in families is described as autosomal recessive. Shwachman syndrome is caused by faulty copies of the SBDS gene located on the long ‘q’ arm of chromosome 7, specifically at 7q11.
Useful links: Shwachman-Diamond Disease Foundation (USA) Shwachman Diamond America

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