Schwachman-Diamond Syndrome (SDS)

SDS is one of the inherited bone marrow failure syndromes characterized by:

  • Abnormal pancreas function (usually presenting as a long-standing diarrhea)
  • Growth failure
  • Bone marrow failure
  • Neutropenia (most patients present with recurrent infections)

Some patients may also have bone abnormalities, liver abnormalities, tooth abnormalities and learning disorders. The patients may progress to a complete absence of bone marrow function and some may also progress to acute leukemia.

This disorder is usually diagnosed in infancy using the patient's signs and symptoms together with a genetic change in the known gene (SBDS).