Down syndrome

Question 1

Definition of Down syndrome

Answer 1

• Trisomy 21

Question 2

Risk factors of Down syndrome

Answer 2

• Family history
• Maternal age

Question 3

Characteristic dysmorphic features of Down syndrome

Answer 3

• Head
  
  • Brachycephaly (flat occiput)
• Eyes
  
  • Epicanthic folds (medial skin fold of the upper eyelid)
  • Upward slanting palpebral fissure (medial → lateral aspect of eye)
  • Brushfield spots (small whie spots on the periphery of the iris)
• Nose
  
  • Short
  • Low nasal bridge
  • Small nares
• Ears
  
  • Small
  • Low set
• Mouth
  
  • Protruding tongue
  • High arched palate
  • Down-turned with small oral cavity
• Neck
  
  • Excess skin
• Hands
  
  • Broad
  • Single transverse palmar crease (Simian crease)
  • Characteristic fingerprints
  • 5th finger clinodactyly (inward curvature)
• Feet
  
  • Wide space between 1st and 2nd toes
• Pelvis
  
  • Dysplasia

Question 4

Clinical manifestations of Down syndrome

Answer 4

• Hypotonia
• Congenital heart disease (50%)
  
  • AVSD
• Respiratory complications
  
  • Hypotonia
  • Immune dysfunction
  • Heart disease etc.
• Duodenal atresia
  
  • Constipation
• Hearing loss
• Leukaemia
• Hypothyroidism
• Intellectual disability
• Alzheimer’s