Heart and Blood Conditions

Shwachman-Diamond Syndrome Symptoms and Diagnosis

What are the symptoms of SDS?

Shwachman-Diamond syndrome can affect many parts of your child's body. Because children with Shwachman-Diamond syndrome often cannot digest food well, they may have:


  • Problems with feeding
  • Poor growth
  • Greasy and foul-smelling diarrhea
  • Low levels of vitamin A, vitamin D, vitamin E and vitamin K


Because their bone marrow doesn't produce blood cells properly, they may:


  • Have more infections, like ear, sinus and skin infections and pneumonia
  • Be more likely than other children to develop disorders that affect the blood, like aplastic anemia and myelodysplasia
  • Be more likely to develop cancers, including leukemia, particularly acute myeloid leukemia  


Children with the disease may also have problems with their skeletons, including:


  • Short in stature compared to other children (they are not as tall)
  • Problems with hips and knees
  • Short ribs
  • Curve in the spine (scoliosis)
  • Low bone density (osteopenia), which may cause bones to break more easily


Shwachman-Diamond Syndrome Diagnosis

Shwachman-Diamond syndrome can be hard for doctors to diagnose because symptoms vary among different people. The symptoms may come and go, or even improve over time. To diagnose your child, our Marrow Failure team will do one or more of the following:


  • Take a detailed health history, including family history
  • Carefully examine your child for signs of illness, skeletal abnormalities and other physical characteristics of SDS


We may ask your child to have one or more tests. We may:


  • Take a blood sample to measure levels of enzymes produced by your child's pancreas.
  • Take a stool sample to see how much fat is in your child's bowel movements. This is a sign that your child's body is not digesting fat as it should.
  • Draw and test blood. Blood tests include:
    • A complete blood count (CBC) to measure how many red blood cells, white blood cells and platelets your child has
    • Genetic screens to rule out other inherited forms of anemia and other disorders, including myelodysplastic syndrome
  • Get a bone marrow sample. Samples of bone marrow are taken to understand the reason for the marrow failure. Your child will get medicine to make them sleep so that they do not feel pain during the procedure. A small needle is placed into the hip bone to take out a small amount of bone marrow (this is called an aspiration). Usually, a very small piece of bone is also removed (called a biopsy).


Once the lab results come in, your child's care team will discuss the immediate and long-term treatment plan with you.