How is Shwachman-Diamond syndrome (SDS) prevented?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Answer

See the list below:

  • No prevention for Shwachman-Diamond syndrome is known.

  • Advise parents to obtain genetic counseling.

  • A genetic test for carrier status is available. All siblings of patients with Shwachman-Diamond syndrome should undergo genetic testing. Persons who carry a single Shwachman-Diamond syndrome mutation do not have clinical symptoms.


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