- 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
- Average Height
- 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
- 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
- Severe constipation
- 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