Shwachman-Diamond Syndrome Foundation

The Shwachman-Diamond Syndrome Foundation (SDSF) is a non-profit, voluntary support organization that functions as an international support system for people with Shwachman-Diamond syndrome and their families. Shwachman-Diamond syndrome is an extremely rare inherited disorder with multiple and varied manifestations. In most cases, the disorder may be characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities such as neutropenia, anemia, thrombocytopenia, hypocellularity), abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); short stature. The organization maintains a central registry and medical profiles of individuals with this disorder. The registry also contains the names of medical professionals who have experience in treating people with Shwachman-Diamond syndrome or who have expressed a desire to treat people with this disorder. Established in 1994, the support group publishes a periodic newsletter and seeks to increase awareness of this disorder among the medical community and the public. Other goals of Shwachman-Diamond Syndrome International are to stimulate interest in ongoing medical research, improve treatments, and develop informational brochures and pamphlets.