Fraxf Syndrome

FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.

Epidemiology

Prevalence is unknown.

Etiology

The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene.