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Human Genetics Disorders and more

Shwachman-Diamond Syndrome (SDS)

Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that primarily affects digestive enzymes in the pancreas,  blood cells in bone marrow, and skeletal structure. Individuals with this disorder have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Neutropenia causes a higher risk to bacterial infections. Symptoms of Shwachman-Diamond Syndrome include: diarrhea, neutropenia, thrombocytopenia(low platelets), anemia, skeletal deformities or abnormalities, feeding difficulties, and growth problems.

1 comment

1 pattie { 08.29.08 at 7:02 am }

Thanks for adding this to your blog. I have two boys with Shwachman-Diamond Syndrome.

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