Fragile X syndrome

Also known as: Martin–Bell syndrome

X-linked intellectual disability with macroorchidism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Genetic endocrinology
Sex & age distribution: Male: affected; Female: affected, milder; Children: yes
Gene(s) involved: FMR1

Etiology & mechanism

FMR1 CGG repeat expansion silences gene.

Gene(s) involved (1)

FMR1

Symptoms & signs (8)

autismhyperactivityintellectual disabilityjoint laxitylarge earslong facemacroorchidismpremature ovarian insufficiency (premutation)

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.