Shwachman Diamond Syndrome

Shwachman Diamond syndrome (SDS) is one of the inherited bone marrow failure syndromes characterized by:

• Abnormal pancreas function (the pancreas does not produce enough of the enzymes that digest fats, proteins and carbohydrates, leading to long-standing diarrhea)
• Growth failure
• Bone marrow failure
• Neutropenia (most patients present with recurrent infections)

Some children with Shwachman Diamond syndrome may also have:

• Bone abnormalities
• Liver or gastrointestinal (GI) abnormalities
• Tooth abnormalities
• Learning disorders

In some cases, children with SDS may develop a complete absence of bone marrow function or acute leukemia.

Shwachman Diamond syndrome is usually diagnosed in infancy with a physical exam, medical history, blood and genetic testing. A genetic change in any of the known genes that cause SDS will confirm the diagnosis.