• Shwachman-Diamond Syndrome Overview

    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. 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 SDS are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Continue reading to learn more about SDS or visit the Bone Marrow Failure Program homepage to learn about our expertise and treatment options for this condition.

    Symptoms & Diagnosis

    Caused by a genetic mutation passed from the child’s parents (in most cases, the parents show no signs of the syndrome), SDS affects several body systems, including the bone marrow, pancreas and skeleton (and occasionally the liver and teeth). After cystic fibrosis, it is the next most common cause of pancreatic insufficiency, which results in a failure to produce enough of the enzymes required to properly digest food.

    The most common symptoms of SDS are:

    • Chronic, often greasy and foul-smelling diarrhea
    • Frequent infections due to low white blood cell count
    • Poor growth
    • Anemia 
    • Thrombocytopenia 
    • Skeletal abnormalities, including growth plate changes, rib cage deformities, scoliosis (curvature of the spine), delayed tooth development, dental abscesses, cavities and gum problems

    Doctors diagnose SDS with:

    • Blood work to evaluate red blood cells, white blood cells and platelets
    • Kidney, liver and pancreatic function tests
    • Pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption
    • Stool collection
    • Skeletal survey to evaluate bones
    • Bone marrow biopsy and aspiration
    • Genetic testing

    After all tests are completed, doctors will be able to outline the best treatment options.

    Treatment & Care Options

    Treatment of SDS includes:

    • Pancreatic enzyme replacement – to help break food down into smaller, more absorbable nutrients
    • Intravenous antibiotics – especially when white blood cell counts are low
    • Growth factor therapy – to stimulate the bone marrow to make more white blood cells
    • Orthopedic surgery – depending on specific skeletal problems
    • Blood transfusion – for children at high risk of anemia and/or bleeding

    Progressive or Recurrent Disease

    Children with SDS have a small but significant chance of developing blood disorders such as myelodysplasia or leukemia. Nearly 5 percent of children with the condition will develop leukemia, with the risk rising to 25 percent by adulthood. In addition, recurring infections, including pneumonia, ear and skin infections, are common. Many children with SDS also have vitamin A, D, E and K deficiencies.

    Long-term Outlook

    With modern treatment options and ongoing management, most children with SDS lead normal lives, although continued medications and regular monitoring through hospital visits are usually required. These are typically annual visits for children without any major problems or more frequently for those with complications.
  • Contact Us

    Our specialized new patient coordinators can answer your questions about treatment options and becoming a patient.
  • Find Clinical Trials

    We sponsor and collaborate on clinical trials that break new ground in pediatric cancer and blood disorder treatment. callout bg
  • Treating Blood Disorders

    Dana-Farber/Boston Children's patients with blood disorders have access to a variety of treatment options, including blood transfusions, surgery, advanced new medications and stem cell transplant.