Diamond-Shwachmann syndrome

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Shwachmann-Diamond syndrome is an autosomally recessive disorder which primarily affects the:

  • pancreas
  • bones
  • immune system

The prevalence is about 1 in 200,000 of the population. It is therefore about 100 times less frequent than cystic fibrosis.

Symptoms are improved by the administration of pancreatic enzymes.

Note that there is some confusion in the literature as to the spelling of this disorder. Both options are included here.

Last reviewed 01/2018

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