Shwachman-Diamond Syndrome

Also known as: SDS, Shwachman-Bodian-Diamond syndrome.

What is Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome is a rare complex disorder that affects a child's bone marrow, pancreas, bones, and sometimes other parts of the body. Bone marrow failure results in not enough of some or all of the blood cells being produced. This leads to problems such as neutropenia, anemia and other disorders.

A lack of enzymes from the pancreas leads to poor food absorption and in addition skeletal abnormalities may be present.

What causes Shwachman-Diamond syndrome? 

Shwachman-Diamond syndrome is caused by a mutation in the gene called SBDS in 90% of children, while the other 10% the cause is unknown. Both parents need to have the abnormality for the child to inherit it.

What are the symptoms of Shwachman-Diamond syndrome? 

The symptoms are varied. Common symptoms include:

  • frequent infections
  • greasy foul smelling diarrhea stools
  • poor growth
  • fatigue
  • weakness
  • easy bruising and bleeding
  • problems with bone development and growth (rib cage abnormalities, curvature of the spine, problems with bone formation in the hips and knees etc).

Children have a higher risk of developing other blood disorders.

What are Shwachman-Diamond syndrome care options? 

The primary approach to treatment for Shwachman-Diamond syndrome is to try to manage the symptoms related to the disease with pancreatic enzyme replacement, antibiotics, other medications as needed, blood transfusions, and orthopedic devices/surgery.

For some children a stem cell transplant may cure the bone marrow failure.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: April 12, 2022 01:47 PM

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