Snapshot A 3-year-old boy is brought to the pediatrician by his new foster parents. The child was recently adopted and little information was available about his family history, except that his mother was not compliant with prenatal visits had been admitted to the hospital several times for substance abuse. Neuropsychological tests confirm that the child has mild intellectual disability. Physical examination is notable for characteristic facies seen in the image. Introduction Overview fetal alcohol syndrome involves adverse effects to the child that occur due to maternal alcohol consumption during pregnancy diagnosis based on findings in 3 areas characteristic facial anomalies (see below) growth delay cognitive involvement Epidemiology Incidence 1-2 cases per 1000 live births Risk factors significant maternal alcohol consumption during pregnancy consumption of > 6 drinks per day is associated with a 40% risk of fetal alcohol syndrome no safe level of alcohol consumption has been established during pregnancy, though more subtle symptoms occur with decreased consumption ETIOLOGY Pathophysiology alcohol crosses the placenta to reach the fetus most common teratogen that a fetus may be exposed to in utero ethanol can alter fetal development by disrupting cell differentiation and growth, DNA and protein synthesis, and cell migration Presentation Symptoms intellectual disability decreased muscle tone poor motor coordination Physical exam craniofacial abnormalities short palpebral fissures epicanthal folds thin, smooth border of the upper lip facial hypoplasia microophthalmia strabismus ptosis developmental delay microcephaly heart murmur may be evident from congenital heart defects ASD VSD Studies Chromosomal analysis rule out unbalanced translocations or visible deletions Fluorescent in situ hybridization (FISH) rule out 22q11 deletion Differential 22q11 deletion key distinguishing factor FISH analysis will show 22q11 deletion Maternal phenylketonuria (PKU) key distinguishing factor abnormal level of phenylalanine on PKU blood test Treatment Lifestyle education and social support of at-risk mothers