ORPHA:811
Shwachman-Diamond syndrome
Also called Pancreatic insufficiency and bone marrow dysfunction, SDS, Shwachman syndrome, Shwachman-Bodian-Diamond syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Italy)
- Rarity class
- 1-9 / 1 000 000
ORPHA:811 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Abnormality of the skeletal system
- Exocrine pancreatic insufficiency
- Abnormality of blood and blood-forming tissues
- Decreased total neutrophil count
- Anemia
- Fat malabsorption