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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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.

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