Facial features include:
- Large head
- Long face
- Large forehead and chin
- Ears that stick out
- High arched palate or sometimes cleft palate
- These features become more noticeable with age.
Macro-orchidism (large testes) typically happens after puberty.
Loose joints mostly in fingers, thumbs, wrists. Also, flat feet occur.
Cardiac findings include mitral valve prolapse and aortic root dilatation.
Strabismus (crossed eyes) is present.
Skin is extra soft and smooth.