Barth Syndrome Foundation

Record last updated 2017/02/09 Comment on this info .Update this info

Contact Information

Barth Syndrome Foundation
Contact: Shelley Bowen, Director, Family Services & Awareness
Email Address: shelley.bowen@barthsyndrome.org
Phone: (914) 303-6323
Alternate Phone: (855) 662-2784
Fax: (518) 213-4061

PO Box 618 Larchmont, NY 10538
Area Served: Out of State

Map Location Barth Syndrome Foundation

Narrative

Provides both a comprehensive website and online support and also helps to connect families to each other.  Barth syndrome (BTHS) is an X-linked genetic condition, usually transmitted from mother to son (although there is a relatively high incidence of new mutations in Barth syndrome and one confirmed case report of a female Barth syndrome patient). A mother who is a carrier of a Barth syndrome mutation (the gene is named tafazzin — also called TAZ or G4.5) shows no signs or symptoms of this disorder herself, probably due to skewed X-chromosome inactivation.

Program Type

  • Advocacy
  • Information/Referral
  • Support Groups

Populations Served

  • Barth Syndrome

Ages Served

  • 14 - 18
  • 19 – 22
  • 23 – 59
  • 3 - 4
  • 5 - 8
  • 60 +
  • 9 - 13
  • Birth to 3

Additional Information

  • Fees: Free Service