“Saving lives through education,
   advances in treatment, and
finding a cure for Barth syndrome”


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 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 of diagnosing and treating BTHS.

Barth Syndrome Registry & Repository

Professional Healthcare Brochure (Updated October 2013)

How to Diagnosis

Research Grant Program

FACT Sheets

Scientific & Medical Advisory Board

Barth Syndrome FAQs

Scientific & Medical Presentations

Barth Syndrome Growth Charts (Barth Syndrome Registry: Distinguishing
disease characteristics and growth data from a longitudinal study

Scientific & Medical Publications

Human TAZ Gene Variants Database

International Scientific & Medical Conference

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.

Human TAZ Gene Variants Database 

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

Last Updated: 2016-10-25

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