Foetal Alcohol Syndrome


  • Spectrum of disorders due to alcohol consumption in pregnancy
  • Alcohol is a teratogen: it disrupts cellular differentiation and growth, disrupts DNA and protein synthesis and inhibits cell migration.
    • The foetus depends on maternal alcohol metabolism (foetal ADH <10%).  Also alcohol can collect and remain in the amniotic fluid.
    • Finally, alcohol can impair the transfer of important carbohydrate, protein and nutrients across the placenta and indirectly cause growth restriction of the unborn foetus
  • It is not recommended for any pregnant women to drink alcohol, although 1-2 units once a week is not thought to be harmful (from literature).
  • Alcoholism/alcohol consumption can be difficult to recognise in any individual.  This can be true of pregnant women also.
  • Epidemiology
    • In the UK, recent figures suggest an incidence of around 0.2 per 1000 live births

Features/Diagnosis of FAS

  • Confirmed maternal alcohol exposure (this may be hard to determine)
  • Evidence of characteristic minor facial abnormalities- including two of the following
    • short palpebral fissures (<10th percentile)
    • thin vermillion border of the upper lip
    • smooth philtrum (ridge under nose/above lip)
  • Evidence of prenatal and/or postnatal growth restriction
    • particularly if <10th percentile
  • Evidence of deficient brain growth or abnormal morphogenesis including one or more of
    • structural brain abnormalities
    • head circumference <10th percentile
  • Evidence of a complex pattern of behavioural/cognitive/developmental problems that cannot be explained genetically, by family history or environment alone
    • Global developmental delay as a young child and cognitive/behavioural problems later in childhood
  • Birth defects may also be found
    • Heart
      • ASDs, VSDs,
    • musculoskeletal
      • contractures, scoliosis,
    • Renal
      • dysplastic kidneys, horseshoe kidneys, duplex ureter/kidney,
    • Eyes
      • strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia,
    • Ears
      • conductive hearing loss, neurosensory hearing loss,
    • Other
      • short fifth digits, clinodactyly of 5th finger, pectus carinatum/excavatum, camptodactyly,


  • Most patients just require supportive management and specialist services (e.g. developmental services etc)
  • Maternal counselling for this and future pregnancies is important
  • Individuals with FAS will often have behavioural problems which may cause difficulties later in life and social support is important later in life.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: