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What is Shwachman-Diamond Syndrome?

  • Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food and, in some cases, skeletal abnormalities. The condition is named for Boston Children's Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD (who later established Dana-Farber/Boston Children's Cancer and Blood Disorders Center), who were among the researchers to first describe it in 1964. Most infants with SDS are born with the condition, with symptoms usually appearing by four to six months of age.

    Shwachman-Diamond Syndrome Treatment at Dana-Farber/Boston Children's

    Children with Shwachman-Diamond syndrome are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments.

    Learn more

    Find more in-depth information on Shwachman-Diamond syndrome on the Dana-Farber/Boston Children's website, including answers to:

    • What causes Shwachman-Diamond syndrome?
    • What are the symptoms of Shwachman-Diamond syndrome?
    • How is Shwachman-Diamond syndrome diagnosed?
    • How is Shwachman-Diamond syndrome treated?
    • What is the latest research on Shwachman-Diamond syndrome?