Webbed neck
Low-set ears
Broad chest with widely spaced nipples
High, narrow roof of the mouth (palate)
Arms that turn outward at the elbows
Fingernails and toenails that are narrow and turned upward
Swelling of the hands and feet, especially at birth
Short stature
Slowed growth
Cardiac defects
Low hairline at the back of the head
Small lower jaw
Short fingers and toes
Karyotyping
Referral to paediatrician