Condition
Shwachman-Diamond Syndrome
Gastroenterology
Overview
An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Shwachman-Diamond Syndrome
- Topic type
- Condition
- Category
- Gastroenterology
- MeSH classification
- C06.689.276.500|C15.378.190.223.500.875|C18.452.584.563.824|C18.452.584.718.875
Preparing for an appointment about Shwachman-Diamond Syndrome
If you are speaking with a healthcare professional about Shwachman-Diamond Syndrome, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
Finding care related to Shwachman-Diamond Syndrome
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.