Shwachman syndrome

Shwachman syndrome is characterized by exocrine pancreatic insufficiency, hematologic abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. Males and females are affected with equal frequency.

Alternative names

SDS

Pancreatic insufficiency and bone marrow dysfunction

Shwachman Bodian Diamond syndrome

Shwachman Diamond syndrome

Lipomatosis of pancreas, congenital

Classification

  • Defects of phagocyte function

Inheritance

Autosomal recessive

OMIM

#260400 Shwachman-Diamond syndrome; SDS

*607444 SBDS gene; SBDS

Cross references

Phenotypically related immunodeficiencies

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Incidence

Incidence is not known.