Fragile X Disorders

Fragile X-associated Disorders are a family of inherited conditions caused by alterations (expansions) in the FMR1 gene on the X chromosome.

These include Fragile X syndrome, Fragile X-associated Tremor Ataxia syndrome (FXTAS), Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and the newer term Fragile X-associated Neuropsychiatric Disorders (FXAND).

Fragile X-associated disorders are considered to be frequently under-recognised and often misdiagnosed.(1)

(1) Reference: Fragile X Disorders: Don’t Miss Them, R Birch, J Cohen, J Trollor. Australian Family Physician, Royal College of General Practitioners, July 2017.