Family Services & Advocacy Barth Syndrome Foundation

Family Services & Advocacy Barth Syndrome Foundation

Record last updated 2020/06/29 Comment on this info .Update this info

Contact Information

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

2005 Palmer Avenue #1033 Larchmont, NY 10538
Area Served: Out of State

Map Location Family Services & Advocacy

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.

Barth Syndrome Foundation Birth to 3, 3 - 4, 5 - 8, 9 - 13, 14 - 18, 19 – 22, 23 – 59, 60 + Larchmont Shelley Bowen shelley.bowen@barthsyndrome.org 518-213-4061 914-303-6323 855-662-2784 18591 Family Services & Advocacy Advocacy, Information/Referral, Support Groups 7) Out of State Family Support 2005 Palmer Avenue #1033 Director http://www.barthsyndrome.org 10538 Free Service Barth Syndrome Local Area Director NATIONAL

Service Types

  • Family Support

Program Type

  • Advocacy
  • Information/Referral
  • Support Groups

Populations Served

  • Barth Syndrome

Ages Served

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

Additional Information

  • Fees: Free Service