Snapshot A 6-year-old boy is brought to a new pediatrician for a routine check-up by his uncle. The child was separated from his mother soon after birth due to maternal substance abuse and subsequent incarceration. On physical examination, the child has poor muscle tone in the upper and lower extremities bilaterally and trouble balancing on 1 leg when prompted. The physician notices that the child has a small head size and characteristic facial features, as 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 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 otu 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