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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.
Children with Shwachman-Diamond syndrome are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and Myelodysplastic Syndrome 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.
Find more in-depth information on Shwachman-Diamond syndrome on the Boston Children's Hospital website, including answers to:
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