Fragile X Syndrome

  • Facts:
    X linked defect, FMR1 gene
    Triplet repeat (CGG) disorder, with anticipation
    Second MCC of genetic mental retardation
  • History / PE:
    Learning disabilities
    Hyperactivity
    Short attention span
    Autism
    Prominent jaw
    Large, low set ears
    Macroorchidism



Review Edit Entry New Entry


July 19th 2010