To Top
0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


The information contained in the Organizational Database (ODB) is provided for informational purposes only. There is no implied endorsement by NORD. NORD does not promote or endorse participation in any specific organization. The information is subject to change without notice. Every effort is made to ensure that the details for each entry are as current as possible.

Shwachman-Diamond Syndrome Foundation


127 Western Avenue
Sherborn, MA 1770 USA





800 Number


Email Address

[email protected]


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.

Please Note

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.