Down Syndrome: Features

Question 1

What are some clinical features of Down’s Syndrome?

Answer 1

• Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small ears, round/flat face
• Flat occiput
• Single palmar crease, pronounced ‘sandal gap’ between big and first toe
• Hypotonia
• Congenital heart defects (40-50%)
• Duodenal atresia
• Hirschsprung’s disease

Question 2

What cardiac complications can someone with Down Syndrome have?

Answer 2

• Multiple cardiac problems may be present
• Endocardial cushion defect (c. 40%, also known as atrioventricular septal canal defects)
• Ventricular septal defect (c. 30%)
• Secundum atrial septal defect (c. 10%)
• Tetralogy of Fallot (c. 5%)
• Isolated patent ductus arteriosus (c. 5%)

Question 3

What are some later complications of Down Syndrome?

Answer 3

• Subfertility: males are almost always infertile due to impaired spermatogenesis.
  
  • Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
• Learning difficulties
• Short stature
• Repeated respiratory infections (+hearing impairment from glue ear)
• Acute lymphoblastic leukaemia
• Hypothyroidism
• Alzheimer’s
• Atlantoaxial instability