GROWTH
Height
• Short stature
Other
• Failure to thrive
HEAD & NECK
Head
• Macrocephaly, relative or absolute
• Craniosynostosis (rare)
Face
• Prominent forehead
Ears
• Low-set ears
• Posteriorly rotated ears
• Overfolded helices
• Thickened helices
• Preauricular ear pits
Eyes
• Hypertelorism
• Down slanting palpebral fissures
• Ptosis (in some patients)
Mouth
• High-arched palate
Neck
• Short neck
• Broad neck
• Webbed neck
CARDIOVASCULAR
Heart
• Mitral valve thickening
• Mitral valve insufficiency
• Tricuspid valve insufficiency
• Pulmonic valve stenosis
• Patent foramen ovale
• Patent ductus arteriosus
• Atrial septal defect
• Ventricular septal defect
• Right bundle branch block
Vascular
• Aortic coarctation
• Aortic dilation and tortuosity
• Dilated aortic root
• Hypoplastic left aortic arch
• Small coronary fistula to main pulmonary artery
• Peripheral pulmonary stenosis
CHEST
Ribs Sternum Clavicles & Scapulae
• Pectus excavatum (in some patients)
• Pectus carinatum (in 1 patient)
GENITOURINARY
Internal Genitalia (Male)
• Cryptorchidism
SKELETAL
• Delayed bone age
Skull
• Craniosynostosis (in 1 patient)
Limbs
• Joint hypermobility
SKIN, NAILS, & HAIR
Skin
• Freckling
• Cafe-au-lait spots
• Irregular hypopigmentation on back
• 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
• Hypotonia
• Mild ventriculomegaly
• Cerebellar tonsillar ectopia (in some patients)
o Chiari I malformation (in 1 patient)
o Dandy-Walker malformation (in 1 patient)
o Optic nerve hypoplasia (in 1 patient)
o Septo-optic dysplasia (in 1 patient)
• Prominent subarachnoid spaces (in 1 patient)
PPP1CB