Shwachman-Diamond Syndrome

What is Shwachman-Diamond syndrome?

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. SDS is named for Boston Children's Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD, who were among the researchers to first describe the condition in 1964. Most infants with SDS are born with the condition, with symptoms usually appearing by 4 to 6 months of age.

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.

Children with SDS have a small but significant chance of developing blood disorders such as myelodysplastic syndrome (MDS) 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 growth problems and vitamin A, D, E, and K deficiencies.

 

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:

  • anemia
  • thrombocytopenia (occurring in up to 30 percent of children with SDS)

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.

How we care for SDS

Children with SDS 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.

Our areas of research for SDS

In addition to providing information and access to local and national research initiatives, our clinic offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with SDS.

Dana-Farber/Boston Children's is a leading member of the SDS Registry, which works with patients to collect blood and bone marrow for SDS research. Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of disease and how they relate to patients' clinical outcomes — first steps to identifying possible new treatments. In addition, Dana-Farber/Boston Children's physician-scientists are investigating the role of molecules called microRNAs, which can control how genes are expressed, in SDS.