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Start free with EleplanShwachman-Diamond syndrome
ORPHA:811Disease
Also called Pancreatic insufficiency and bone marrow dysfunction · SDS · Shwachman syndrome · Shwachman-Bodian-Diamond syndrome
What it is
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.
Key facts
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
7Common30–79%
22- Atypical behavior
- Chronic neutropenia
- Delayed skeletal maturation
- Failure to thrive
- Growth delay
- Hypoamylasemia
- Impaired neutrophil chemotaxis
- Increased mean corpuscular volume
- Increased serum bile acid concentration
- Low levels of vitamin A
- Low levels of vitamin D
- Low levels of vitamin E
- Low levels of vitamin K
- Macrocytic anemia
- Malnutrition
- Myelodysplasia
- Normocytic anemia
- Pancreatic hypoplasia
- Short stature
- Steatorrhea
- Thrombocytopenia
- Transient neutropenia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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