Macrocephaly, coarse facies, large fontanels or delayed closure and wide and long forehead. Papillomata around the mouth and nares. Downslanting palpebral fissures and strabismus. Depressed nasal bridge and epicanthal folds. Hyperkeratosis palmaris et plantaris, palmar nevi, short and flat hyperextensible fingers, ulnar deviation of hands, and positional defects of the feet.
Dermatoglyphic findings consist of deep plantar and palmar creases.
Tight Achilles tendon and defective elbow extension. Dark pigmentation, acanthosis nigricans, and loose skin of hands and feet. Thin and deeply set nails, hirsute forehead, and curly sparse, short, or thin hair. Brain atrophy and hydrocephalus. Warm, sociable, and humorous personality.