HEAD & NECK
Head
• Microcephaly
Face
• Short philtrum
• Thick philtrum
• Maxillary hypoplasia
Ears
• Low-set ears
• Thick earlobes
Eyes
• Telecanthus
• Megalocornea
• Blue sclerae
• Corneal ulcer
• Downslanting palpebral fissures
• Ptosis
• High-arched, dense eyebrows
• Curled eyelashes
• Synophrys
Nose
• Prominent nasal bridge
• Broad nasal bridge
• Bulbous nasal tip
Mouth
• Full lips
• Everted lower lip
Neck
• Short neck
CHEST
Breasts
• Widely spaced nipples
ABDOMEN
Gastrointestinal
• Hirschsprung disease (in most patients)
SKELETAL
Hands
• Tapered fingers
• Clinodactyly
• Small hands
SKIN, NAILS, & HAIR
Hair
• Sparse hair
MUSCLE, SOFT TISSUES
• Hypotonia
NEUROLOGIC
Central Nervous System
• Delayed psychomotor development
• Mental retardation
• Pachygyria
• Polymicrogyria
• Thin corpus callosum
• Brainstem hypoplasia
KIFBP