A review of the physical features of the fetal alcohol spectrum disorders

Eur J Med Genet. 2017 Jan;60(1):55-64. doi: 10.1016/j.ejmg.2016.10.004. Epub 2016 Oct 10.


The fetal alcohol spectrum of disorders (FASD) includes four diagnostic categories for the clinical consequences of prenatal alcohol exposure (PAE) in the unborn child. Physical features are necessary for the diagnosis of the fetal alcohol syndrome (FAS) and partial pFAS. Moreover, these features are specific and a diagnosis of FAS can be made even in the absence of knowledge of PAE. Not only growth deficits, microcephaly and the 3 facial features (short palpebral fissures, smooth philtrum and narrow vermillion of the upper lip) are characteristic, since other dysmorphic features particularly in the hands are key to the recognition of FAS. Most features can be explained by the damage to the brain during pregnancy and can be replicated in animal models. Many different diagnostic guidelines are used for the diagnosis of FASD and the physical features are considered differently in each of them. There is a need for universal clinical criteria for the diagnosis of FASD if our goal is to favor universal recognition.

Keywords: Diagnostic guidelines; Dysmorphology; FAS; FASD.

Publication types

  • Review

MeSH terms

  • Alcohol Drinking / epidemiology*
  • Alcohol Drinking / physiopathology
  • Alcohols / toxicity*
  • Animals
  • Brain / drug effects
  • Brain / physiopathology
  • Child
  • Disease Models, Animal
  • Female
  • Fetal Alcohol Spectrum Disorders / epidemiology*
  • Fetal Alcohol Spectrum Disorders / physiopathology
  • Humans
  • Pregnancy


  • Alcohols