TABLE 2

Conditions to Be Considered as a Differential Diagnosis for FASD

Syndrome/ConditionFeatures Overlapping With FASDDifferentiating Features
AarskogSmall nose with anteverted nares, broad philtrum, maxillary hypoplasia, and wide-spaced eyesRounded face, down-slanted palpebral fissures, widow’s peak, crease below lower lip, incomplete out folding of upper helices, and dental eruption problems
Cornelia de LangeLong philtrum, thin vermillion border, anteverted nares, and depressed nasal bridgeSingle, bushy eyebrow extending across forehead, long eyelashes, downturned mouth, high arched palate, and short limbs/stature
DubowitzShort palpebral fissures, wide spaced eyes, and epicanthal foldsShallow supraorbital ridge with nasal bridge near the level of the forehead, and broad nasal tip
Fetal hydantoin (filantin)Wide-spaced eyes and depressed nasal bridgeShort nose with bowed upper lip
Fetal valproateEpicanthal folds, anteverted nares, long philtrum with thin vermillion border, and wide-spaced eyesHigh forehead, infraorbital crease or groove, and small mouth
Maternal phenylkeonuria fetal effectsEpicanthal folds, short palpebral fissures, long underdeveloped philtrum, and thin vermillion borderSmall upturned nose, round facies, and prominent glabella
NoonanLow nasal bridge, wide-spaced eyes, and epicanthal foldsDown-slanted palpebral fissures, keratoconus, wide mouth, and protruding upper lip
Toluene embryopathyShort palpebral fissures, mid-face hyoplasia, smooth philtrum, and thin vermillion borderMicrognathia, large anterior fontanel, down-turned mouth corners, hair patterning and ear abnormalities, and bifrontal narrowing
WilliamsShort palpebral fissures, anteverted nares, long philtrum, depressed nasal bridge, and epicanthal foldsWide mouth with full lips, stellate pattern of the iris, periorbital fullness, and connective tissue disorders