The differential diagnosis of fetal alcohol spectrum disorder

Fetal Alcohol Spectrum Disorder (FASD) affects an estimated 1% of all children born in North America. FASD is a chronic disorder impacting many systems of care. Only a minority of these children exhibit the pathognomonic facial features of Fetal alcohol syndrome (FAS) that include short palpebral fissures, smooth philtrum and thin upper lip. Hence, in the majority of affected individuals FASD is a diagnosis of exclusion. The differential diagnosis of both the dysmorphological and neurobehavioral aspects of FASD is wide. This review aims to provide the pediatrician with information concerning the differential diagnosis of FASD and to discuss genetic testing that might be relevant to the assessment.