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Enhancing the lives and outcomes
of Canadian individuals and families
affected by Barth syndrome."

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The Barth Syndrome Foundation of Canada is an affiliate of the Barth Syndrome Foundation, Inc. Together, along with our other international affiliates, we are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. If you are considering a diagnosis of Barth syndrome or for other reasons want information on this disorder, we can provide you with:


  • Information on symptoms and the latest research findings (as well as access to the world´s largest reference source on published literature consisting of articles about BTHS and topics relevant to aspects of BTHS).
  • Access to other members of the medical community worldwide with experience in diagnosing and treating BTHS.



Barth Syndrome Registry & Repository 

How to Diagnose

Professional Healthcare Brochure 

Highlights of Clinical Knowledge

BSF Highlights of Clinical Knowledge 

Special Request for Healthcare Providers

The Barth Syndrome Foundation (BSF) plays a unique role as the only organization in the world with the largest cohort of individuals who have Barth syndrome (BTHS), and dissemination about research and phenotype of the disorder.



In an effort to provide healthcare professionals and families alike with an invaluable diagnostic tool we are expanding our current Registry and Repository to:


  • reflect genotype/phenotype relationship
  • include benign variants with ultimate diagnosis of a disorder other than BTHS
  • expedite updates in genetic classifications from “unknown significance”

We need your cooperation to accomplish this goal! We would like to be in contact with you if you are a healthcare professional who has:


  • previously treated or is currently treating an individual with a genetic diagnosis of BTHS
  • previously treated or is currently treating an individual who has had molecular studies with a result of a benign variant of BTHS
  • previously treated or is currently treating an individual who has had molecular studies with a result of an unknown variant of BTHS
For information about adding your mutation(s) to the Table, please see BSF

For more information about the services we provide, please contact us.


Privacy and Disclaimer

Barth Syndrome Foundation of Canada does not endorse any drugs, tests, or treatments that we may report.

This website is for informational purposes, always check with your physician before adopting any medical treatment.

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86102 2002 RR0001

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