Noonan syndrome Turner-like syndrome

  • Facts:
    Autosomal dominant condition
    Defects in four genes (KRAS, PTPN11, RAF1, SOS1)
  • History / PE:
    Delayed puberty
    Down-slanting or wide-set eyes
    Hearing loss (varies)
    Low-set or abnormally shaped ears
    Mild mental retardation (25% of cases)
    Sagging eyelids (ptosis)
    Short stature, small penis
    Undescended testicles
    Pectus excavatum
    Webbed and short-appearing neck
  • Treatment:
    Growth hormone (short stature)
  • Notes:
    Defects in the RAF1 gene tend to have a particular heart problem ( hypertrophic cardiomyopathy

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September 8th 2010