Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a very rare, inherited bone marrow failure syndrome. It causes a wide variety of symptoms that can range from a low number of white blood cells and difficulty absorbing food, to (in the most severe cases) possible onset of leukemia.

Some additional facts:

• SDS has an estimated incidence rate of only 1 in 77,000 births.
• It causes an increased risk of infection due to a low white blood cell count.
• After cystic fibrosis, SDS is the second most common cause of pancreatic insufficiency.
• Fifty to 75 percent of children with SDS have skeletal abnormalities, including growth plate changes, short ribs, curvature of the spine, bent fingers or cleft palate.
• SDS is passed from parents to their child through two defective genes, one from each parent.
• It can be identified through blood tests.
• SDS is commonly treated with an approach called pancreatic enzyme replacement.

Here at Children's Hospital Boston, our Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic provides expert, comprehensive and compassionate treatment for SDS.