Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome is a rare gentic sydnrome that affects the pancrease, bone marrow, and other organ systems in the body. Shwachman-Diamond is the second most common cause for pancreatic insufficency in children, with the most common being Cystic Fibrosis. Children with Shwachman-Diamond are frequently thought to have Cystic Fibrosis, thanks to the greasy stools present in most cases.

A person with Shwachman-Diamond will usually have decreased cell counts with the most common being a decrease in the white blood cells called Neutorphils, which are needed to fight of infections. There is an increased risk of Leukemia and Aplastic Anemia (bone marrow failure) for those who have Shwachman-Diamond. Because of this, many doctors recommend that patients with Shwachman-Diamond have yearly bone marrow biopsys and frequent blood checks.

For more information on Shwachman-Diamond Syndrome, please visit Shwachman-Diamond America.

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Inherited Bone Marrow Failure Syndromes – Shwachman Diamond SyndromeÂ

The fourth International Congress on Shwachman-Diamond Syndrome to be held at Harvard.