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