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Fragile X Syndrome

Main Features

  • Intellectual disability (most common cause of inherited disability)
  • Global developmental delay
  • Autism

Eye Findings

  • Refractive Error (17%)
    • Myopia
    • Astigmatism
  • Strabismus (8%)
    • Esotropia
  • Nystagmus- rare

Other Findings

  • Long narrow face
  • Prominent ears
  • Macroorchidism after puberty
  • Joint hypermobility
  • Mitral valve prolapse
  • Aortic Root dilation
  • Seizures (15% males and 5% females

Etiology

  • mutation in FMR1 gene on Xq27.3
    • results in hypermethylation and no gene product
      • Gene product- fragile X messenger ribonucleoprotein- protein involved in synapse development and neuronal function

Resources