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Low muscle tone
This is called hypotonia.
Characteristic facial features
  • Nose
    • Flat bridge of the nose 
  • Eyes
    • Appear to slant upward (upslanting palpebral fissures)
    • Small folds of skin in the inner corners (epicanthal folds
    • Light colored spots (Brushfield spots) in the outer parts of the iris of the eye.  These spots don’t affect an individual’s sight.
  • Mouth
    • Tends to be small and the roof of mouth may be shallow 
    • Tongue often protrudes and appears large in relation to the mouth due to low muscle tone.
  • Teeth
    • May come in late, be small, and appear in an unusual order
  • Ears
    • Small, have small tops that fold over, absent ear lobes, and set lower on head
    • Smaller ear passages that can lead to more frequent ear infections
  • Head shape
    • Smaller than normal
    • Back of the head may be flatter and shorter than normal.
  • Neck
    • Appears shorter with excess folds of skin on the back of the neck
  • Rate of growth not as fast
  • Average adult female height is 4 feet 9.
  • Average adult male height is 5 feet 2 inches.
Hands and feet
  • Small with short fingers 
  • Single crease extending across the palm of one or both hands
  • 5th finger curves inward
  • Toes have a gap between 1st and 2nd toes
  • Breastbone either sticks out or dents in.
  • Mottling is common, as is fair or sensitive skin.
  • Thin, soft, and/or sparse