Record last updated 2024/12/20 Comment on this info .Update this info

Narrative

Provides both a detailed website and online support. We help 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.

Service Types

• Family Support

Program Type

• Advocacy
• Support Groups

Populations Served

• Barth Syndrome
• Developmental Delay Birth to 3
• Developmental Disability

Ages Served

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

Additional Information

• Fees: Free Service