clinical features

Last reviewed 01/2018

Pre-pubertal features:

• normal growth but large head - greater than 50th percentile
• delayed attainment of developmental milestones
• tantrums, hyperactivity and autism

Post-pubertal

• low IQ (20-70)
• long face, prominent forehead, large ears, large jaw
• macroorchidism

Other features

• ophthalmologic - strabismus
• orthopaedic - pes planus & joint hyperextension
• dermatologic - soft, smooth skin
• cardiac - mitral valve prolapse

Fragile X should be considered for all children with developmental delay of unknown cause.