Shwachman syndrome
- Synonyms
- Lipomatosis of pancreas, congenital; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian syndrome; Shwachman-Diamond Syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is an early finding. Short stature and recurrent infections are common.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Adam Nelson
- Kasiani Myers
- view full author information
Available tests
14 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
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