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The most prevalent findings in people with RTS
  • Differences in facial features
    • Small head
    • Downslanting eyes with highly arched eyebrows and long eyelashes
    • Thick scalp
    • Prominent beaked nose
    • Small mouth
    • Low set ears
  • Thumb and first toes
    • Broad and sometimes bent
    • Found in almost all individuals with RTS
    • Surgery may be required to improve use of feet or ability to wear shoes.
    • Orthotics may be required.
  • Short stature
    • Average Height
      • Males: 5 feet
      • Females: 4 feet 10 inches
    • Do not usually have a growth spurt in puberty
  • Developmental delay and intellectual disability
    • In general, nonverbal IQ is higher than verbal
  • Behavior
    • Social and friendly in childhood
    • ADHD
    • Repetitive movements
    • Anxiety, depression, mood instability and aggression in adulthood
Other medical issues that may be associated with RTS
  • Orthopedic
    • Dislocated kneecaps
    • Scoliosis
    • Joint problems
    • Vertebral (spine) abnormalities (spina bifida occulta)
  • Kidney problems or disease
  • Vision (ocular)
    • 80% have some type of eye abnormality
    • Strabismus (crossed eyes)
    • Cataracts
    • Tear duct blockage
    • Glaucoma may be present at birth or early in life
      • May result in blindness if untreated
  • Hearing
    • Frequent ear infections
    • Mild hearing loss seen in ¼ of individuals.
  • Dental
    • Overcrowding
    • High arched palate
  • Cardiac
    • Most frequently patent ductus arteriosus, VSD, and ASD (in about 1/3 of individuals)
    • Some require surgery
  • Gastrointestinal
    • Severe constipation
      • May require aggressive treatment
    • GERD (reflux)
    • Vomiting
    • Diarrhea
  • Frequent upper respiratory infections
  • Obesity
  • Anesthesia may be a problem for some people with RTS
  • Seizures (~25%)
  • May get fungal infections
  • Tendency for scars to be raised (keloid)
  • Increased risk of developing non-cancerous and cancerous tumors
    • Certain brain tumors
    • Leukemia
    • Lymphoma