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. #Downs #Syndrome #PhysicalExam #Features #Signs #Manifestations
