What is Shwachman Diamond Syndrome?
Shwachman Diamond Syndrome (SDS) is a rare genetic disorder. SDS affects many organs in the body and the symptoms may vary from individual to individual.
The primary features of SDS include: bone marrow problems (leading to inadequate production of some types of white blood cells), a defect in the pancreas (leading to difficulties in digesting food), skeletal abnormalities, and short stature. Other, secondary, features may affect some but not all people with SDS.
People with SDS are at risk for serious, sometimes fatal, complications such as severe infections, acute myelogenous leukemia and bone marrow failure.