GROWTH
Height
• Short stature
Other
• Poor weight gain
HEAD & NECK
Head
• Large head
• Early fusion of head bones
Face
• Prominent forehead
Ears
• Ear anomalies
Eyes
• Wide set eyes
• Droopy eyelids (in some patients)
Mouth
• High-arched palate
Neck
• Short neck
• Broad neck
• Webbed neck
CARDIOVASCULAR
• Heart Defects (variable)
CHEST
• Ribs Sternum Clavicles & Scapulae
• Chest deformity or asymmetry
GENITOURINARY
Internal Genitalia (Male)
• undescended testicles
SKELETAL
• Delayed bone age
Skull
• Early fusion of the skull bones (in 1 patient)
Limbs
• Loose joints
SKIN, NAILS, & HAIR
Skin
• Freckling
• Cafe-au-lait spots (brown birthmarks)
• Doughy skin
• Loose thin skin
• Translucent skin
Hair
• Sparse hair
• Slow-growing hair
• Loose hair
• Unruly hair
NEUROLOGIC
Central Nervous System
• Developmental delay
• Speech delay
• Low muscle tone
• Variable anomalies of the central nervous system