Shwachman Diamond Syndrome Registry and Study

This study is building a registry of patients with Shwachman-Diamond Syndrome (SDS) — a rare genetic disease that affects the bone marrow, pancreas, and other organs — to better understand how the disease progresses and find new treatments. **You may be eligible if...** - You have been diagnosed with Shwachman-Diamond Syndrome based on genetic testing (mutations in SBDS, DNAJC21, EFL1, or SRP54) - OR you have a clinical diagnosis of SDS or features strongly suggestive of SDS - OR you are a parent, sibling, or blood relative of someone with SDS or SDS-like conditions (of any age, living or deceased) **You may NOT be eligible if...** - You have a different confirmed diagnosis that explains your bone marrow failure, pancreatic insufficiency, and cancer risk Talk to your doctor to see if this trial is right for you.