🔑 Key Learning

  • Caused by chronic maternal alcohol consumption during pregnancy.
  • Classic triad: microcephaly, growth retardation, characteristic facial abnormalities.
  • Leads to lifelong neurodevelopmental and behavioural issues.
  • Prevention is key: advise complete alcohol abstinence in pregnancy.

🧬 Pathophysiology

  • Ethanol disrupts cellular differentiation, growth, and DNA synthesis in the developing foetus.
  • Greatest risk occurs during the first trimester but remains throughout pregnancy.

👀 Clinical Features

  • Microcephaly (small head circumference)
  • Facial abnormalities:
    • Short palpebral fissures
    • Epicanthal folds
    • Low nasal bridge
    • Smooth/indistinct philtrum
    • Thin upper lip
    • Low-set or abnormally shaped ears
  • Prenatal and postnatal growth restriction
  • Neurodevelopmental issues:
    • Learning disabilities
    • Cognitive impairment
    • Attention and behavioural problems
Foetal alcohol spectrum disorder. Hariadhi, CC BY-SA 4.0 , via Wikimedia Commons

     

💊 Management

  • Early diagnosis and multidisciplinary care:
    • Developmental and educational support
    • Speech and occupational therapy
    • Behavioural management
  • Public health prevention:
    • Strong education on risks of alcohol use during pregnancy
    • Clear recommendation for abstinence

📝 Exam Clues & Clinchers

  • Child with microcephaly, growth restriction, and characteristic facial features.
  • History of maternal alcohol use during pregnancy is diagnostic clue.