Characteristic clinical manifestations of Down syndrome 
 

Typical craniofacial appearance 
 • Round face and flat nasal bridge 
 • Upslanted palpebral fissures 
 • Epicanthic folds (a fold of skin running across 

the inner edge of the palpebral fissure) 
 • Brushfield spots in iris (pigmented spots) 
 • Small mouth and protruding tongue 
 • Small ears 
 • Flat occiput and third fontanelle 

Other anomalies 
 • Short neck 
 • Single palmar creases, incurved fifth finger and wide 'sandal' gap between toes 
 • Hypotonia 
 • Congenital heart defects (40%) 
 • Duodenal atresia 
 • Hirschsprung disease 

Later medical problems 
 • Delayed motor milestones 
 • Moderate to severe learning difficulties 
 • Small stature 
 • Increased susceptibility to infections 
 • Hearing impairment from secretory otitis media 
 • Visual impairment from cataracts, squints, myopia 
 • Increased risk of leukaemia and solid tumours 
 • Risk of atlanto-axial instability 
 • Increased risk of hypothyroidism and celiac disease 
 • Epilepsy 
 • Alzheimer's disease. 


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