Shwachman-Diamond syndrome
Synonyms: Pancreatic insufficiency and bone marrow dysfunction | SDS | Shwachman syndrome | Shwachman-Bodian-Diamond syndrome
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia pancreatic exocrine insufficiency associated with steatorrhea and growth failure skeletal dysplasia with short stature and an increased risk of bone marrow aplasia or leukemic transformation.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Shwachman-Diamond syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.