Situation: A nurse in a level II nursery of a provincial hospital cares for newborns with risk factors identified at birth. A term newborn weighs 2,200 g, below the 10th percentile, and has a head circumference below the 3rd percentile. The nurse notes short eye openings (palpebral fissures), a smooth, flat groove between the nose and upper lip, and a thin upper lip. The prenatal history has not yet been reviewed. These findings are MOST consistent with which condition?

Fetal alcohol syndrome is recognized by three facial features — short palpebral fissures, a smooth philtrum, and a thin upper lip — together with growth deficiency and central nervous system findings such as microcephaly. It is a leading preventable cause of intellectual disability; the nurse next reviews the maternal history of alcohol use in pregnancy.

Clinical Recognition of Fetal Alcohol Syndrome

The combination of findings in this term newborn points directly to a prenatal exposure pattern rather than a chromosomal or endocrine disorder. The infant is symmetrically small for gestational age with a weight below the 10th percentile and a head circumference below the 3rd percentile, which reflects both intrauterine growth restriction and microcephaly. The facial features described — short palpebral fissures, a smooth philtrum, and a thin upper lip — form the classic diagnostic triad for fetal alcohol syndrome (FAS). These three facial dysmorphisms occur together because alcohol disrupts midline craniofacial development during the first trimester, particularly affecting structures derived from the frontonasal prominence.

The diagnosis of FAS rests on three domains: characteristic facial anomalies, growth deficiency, and central nervous system involvement. In this case, the growth parameters already satisfy two of the three domains, and the facial features satisfy the third. According to the diagnostic framework described in the literature, at least two of the typical facial features plus evidence of intrauterine or postnatal growth retardation and neurologic abnormalities are necessary to make the diagnosis ^[1]. The newborn here has all three facial features, making the pattern highly specific for FAS even before the maternal history is obtained.

Key point! The smooth philtrum and thin upper lip are the most discriminating features. A smooth philtrum alone is not specific, but when it appears together with short palpebral fissures and microcephaly in a growth-restricted newborn, the likelihood of prenatal alcohol exposure is high. The nurse should not wait for confirmatory history before considering this diagnosis.

Feature	Fetal Alcohol Syndrome	Down Syndrome	Congenital Hypothyroidism	22q11.2 Deletion
Growth pattern	Prenatal and postnatal growth deficiency, microcephaly	Mild to moderate short stature, brachycephaly	Normal or large birth weight, later growth delay	Often normal birth weight, variable
Facial features	Short palpebral fissures, smooth philtrum, thin upper lip	Upslanting palpebral fissures, epicanthal folds, flat nasal bridge, protruding tongue	Coarse facies, macroglossia, wide posterior fontanelle	Long face, hooded eyelids, small mouth, prominent nasal root
Key distinguishing sign	Smooth philtrum with thin vermilion border	Single palmar crease, hypotonia	Prolonged jaundice, constipation, hoarse cry	Palatal anomalies, conotruncal heart defects

The newborn with FAS may also exhibit neurobehavioral signs that are not yet apparent in the delivery room but should be anticipated. These include irritability, hypotonia, severe tremors, and even withdrawal-like symptoms in the immediate neonatal period ^[1]. Mild intellectual disability is the most common and serious long-term deficit, which underscores why early recognition matters for developmental surveillance and intervention planning ^[1].

Watch out! Down syndrome is the most common distracter because it also presents with hypotonia and growth differences, but the facial gestalt is entirely different — upslanting palpebral fissures and epicanthal folds rather than short palpebral fissures with a smooth philtrum. Congenital hypothyroidism does not produce the specific facial triad seen here, and 22q11.2 deletion syndrome typically involves palatal or cardiac anomalies rather than this facial pattern.

The next nursing action is to review the maternal prenatal history for alcohol use. However, self-reported maternal drinking histories are often unreliable due to stigma, recall bias, and underreporting, which contributes to underdiagnosis of FAS . Therefore, the nurse should document the physical findings objectively and communicate them to the provider, because the physical examination findings are the most reliable basis for suspecting FAS when the maternal history is unavailable or incomplete ^[1].