Version June 2024
| Syndrome | Overlapping features | Differentiating features |
| Aarskog syndrome MIM 100050 | Small nose with anteverted nares, broad philtrum, maxillary hypoplasia, and wide-spaced eyes | Rounded face, down-slant to palpebral fissures, widow's peak, crease, below lower lip, incomplete out folding of upper helices, and dental eruption problems |
| Williams syndrome MIM #194050 | Short palpebral fissures, anteverted nares, long philtrum, depressed nasal bridge, and epicanthal folds | Wide mouth with full lips, stellate pattern of the iris, periorbital fullness, and connective tissue disorders |
| Noonan syndrome MIM #163950 | Low nasal bridge, wide-spaced eyes, and epicanthal folds | Down-slant to palpebral fissures, keratoconus, wide mouth, and protruding upper lip |
| Dubowitz syndrome MIM %223370 | Short palpebral fissures, wide-spaced eyes, and epicanthal folds | Shallow supraorbital ridge with nasal bridge near the level of the forehead, and broad nasal tip |
| Chromosome 15q11-q13 duplication syndrome MIM #608636 | Cognitive impairment, neurobehavioral manifestations | Lacks facial dysmorphisms |
| Cornelia de Lange syndrome 1 (Brachmann-de Lange syndrome) MIM #122470 | Long philtrum, thin vermillion border, anteverted nares, and depressed nasal bridge | Single, bushy eyebrow extending across forehead, long eyelashes, downturned mouth, high-arched palate, and short limbs (yielding short stature) |
| Chromosome 22q11.2 deletion syndromes (eg, DiGeorge syndrome MIM #188400; velocardiofacial syndrome, MIM #192430) | Short palpebral fissures, wide-spaced eyes | Micrognathia, low-set ears, strabismus, short philtrum, high-arched palate, cleft palate, bifid uvula |
| Toluene embryopathy | Short palpebral fissures, mid-face hypoplasia, smooth philtrum, and thin vermillion border | Micrognathia, large anterior fontanel, down-turned mouth corners, hair patterning abnormalities, bifrontal narrowing, and ear abnormalities |
| Fetal hydantoin syndrome (Fetal dilantin syndrome) | Wide-spaced eyes and depressed nasal bridge | Short nose with bowed upper lip |
| Fetal valproate syndrome | Epicanthal folds, anteverted nares, long philtrum with thin vermilion border, and wide-spaced eyes | High forehead, infraorbital crease or groove, and small mouth |
| Maternal PKU fetal effects | Epicanthal folds, short palpebral fissures, long underdeveloped philtrum, and thin vermillion border | Small upturned nose, round facies, and prominent glabella |
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