Clinical features
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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