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.