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 and 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 (90% of children- in the other 10% the cause is unknown) and 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, and 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: 10/31/2017 11:56:49 AM

From the Newsdesk

Nicklaus Children’s Opens Subspecialty Care Center in Boynton Beach
11/07/2017 — The Boynton Beach Care Center is the newest Nicklaus Children’s care location and offers a range of services for children from birth through 21 years of age.
New treatment labeled "a game changer" for patients with diabetes
11/03/2017 — Nicklaus Children’s Palm Beach Gardens Outpatient Center kicked off National Diabetes Month by introducing a new treatment option for children with Type 1 diabetes, the Medtronic MiniMed 670G system, sometimes called an “artificial pancreas,” consistently measures blood sugar, predicts when a rise or fall is going to occur, and adjusts itself to deliver precise doses of insulin, requiring minimal interaction from the patient