Shwachman Diamond Syndrome

What is 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
  • Abnormal Lung Function
  • Hormone Imbalances
  • 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.

Patients with Shwachman Diamond syndrome are cared for by a multidisciplinary team of experts from the Division of Hematology, Division of Gastroenterology, Hepatology, and Nutrition, Division of Endocrinology and Diabetes, and Division of Pulmonary and Sleep Medicine. 

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