Fetal Alcohol Syndrome Differential Diagnoses

Updated: Feb 03, 2023
  • Author: Keith K Vaux, MD; Chief Editor: Santina A Zanelli, MD  more...
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Diagnostic Considerations

Important considerations

Prompt and accurate diagnosis of fetal alcohol syndrome or fetal alcohol spectrum disorder (FASD) is important.

The best time to diagnose fetal alcohol syndrome or FASD is at birth, but most cases are not diagnosed until school age. This delay is mostly because clinicians do not routinely and thoroughly gather information about maternal alcohol use in pregnancy and partly because the diagnosis may be difficult to make in the newborn period. Furthermore, the characteristic facial features tend to become decreasingly recognizable as the child reaches adolescence, making diagnosis difficult after this age.

Children whose diagnosis is missed in infancy may be most likely recognized at age 4-6 years, when behavioral and cognitive problems become apparent. With natural maturation of the facial structures, some craniofacial features of fetal alcohol syndrome may not be as striking in adolescents or adults as in children; however, the effects of alcohol on brain structure and function remain.

For the reasons listed above, obtaining a careful history is of primary concern, followed by an appropriate examination of the child for characteristic features, consultation with a specialist if warranted, and referral for intervention and treatment for both the mother and child if a diagnosis is made.

Differential Diagnosis

Consider the following conditions in the differential diagnosis of fetal alcohol syndrome:

  • Phenocopies

  • Fetal toluene embryopathy

  • Dubowitz syndrome

  • Maternal phenylketonuria (PKU)

  • Some cases of 22q11 deletion