Shwachman-Diamond Syndrome | Symptoms & Causes

What are the symptoms of Shwachman-Diamond syndrome?

The symptoms of Shwachman-Diamond syndrome (SDS) can vary from child to child but affects several body systems, including the bone marrow, pancreas and skeleton, and occasionally the liver and teeth. The most common symptoms of SDS are:

  • chronic diarrhea
  • frequent infections due to low white blood cell counts
  • poor growth
  • pale skin
  • lack of energy or tiring easily (fatigue)
  • bruising, or a red or purple pinpoint rash on the face or body
  • bleeding (for example bleeding gums, nosebleeds, blood in the stool)
  • skeletal abnormalities, including growth plate changes, rib cage deformities, scoliosis (curvature of the spine), delayed tooth development, dental abscesses, cavities and gum problems

After cystic fibrosis, SDS is the next most common cause of pancreatic insufficiency, which makes it difficult for patients to digest and absorb food.

Other signs can include:

What causes SDS?

SDS is caused by a mutation in a gene known as SBDS. SDS is a recessively inherited disorder, meaning that a child must inherit two defective copies of the gene (one from each parent) to develop the disease. In most cases, the parents show no signs of the syndrome.

Genetic tests can identify the precise mutation in about 90 percent of children with SDS. It is believed that an as-yet-unidentified gene is responsible for the remaining 10 percent.