Children with the condition exhibit distinct facial features, including wide-set eyes, low nasal bridge, small eyes, slanted eyelids, epicanthal folds, small ears, a tongue that often sticks out of the mouth, and excessive drooling. They are short in stature with a small head circumference, shorter forehead and back of the head, and a flat head at the occiput. The neck is short and the skin is loose. Their bone age often lags behind their actual age, with delayed eruption of teeth and frequent misalignment. Their hair is fine, soft, and sparse. The fontanelle closes late, and there may be a third fontanelle along the midline of the top of the head. Their limbs are short, with joints that can over-curve due to relaxed tendons. Fingers are thick and short, with the middle phalanx of the little finger underdeveloped and bending inward. The metacarpal bones are short, and the triradiate point of the palm shifts towards the distal end. Common features include transverse palmar creases and hammer toes; about half of the children have arched skin patterns on the ball of the big toe.