This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Schwachmann-Diamond syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.


Related pages

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.