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. Most infants with SDS are born with the condition, with symptoms usually appearing by four to six months of age.
Children with SDS are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Continue reading to learn more about SDS or visit the Bone Marrow Failure Program homepage to learn about our expertise and treatment options for this condition.
Caused by a genetic mutation passed from the child’s parents (in most cases, the parents show no signs of the syndrome), SDS affects several body systems, including the bone marrow, pancreas and skeleton (and occasionally the liver and teeth). After cystic fibrosis, it is the next most common cause of pancreatic insufficiency, which results in a failure to produce enough of the enzymes required to properly digest food.
The most common symptoms of SDS are:
Doctors diagnose SDS with:
After all tests are completed, doctors will be able to outline the best treatment options.
Treatment of SDS includes: