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. Author manuscript; available in PMC: 2019 May 6.
Published in final edited form as: Am J Med Genet A. 2018 Oct;176(10):2058–2069. doi: 10.1002/ajmg.a.40637

Table 2.

Dysmorphic Features Among Individuals with 22q11.2 Deletion Syndrome

Dysmorphic Feature Percentage
At least one abnormal ear helix 63 %
At least one protuberant ear 26 %
At least one posteriorly rotated ear 10 %
At least one low set ear 6 %
At least one ear tag 2 %
At least one ear pit 0.7 %
Bulbous Nasal Tip 64 %
Hypoplastic Alae Nasae 27 %
Broad Nasal Bridge 13 %
Anteverted Nares 1 %
Eye Hooding 42 %
Epicanthal folds 16 %
Up-slanting palpebral fissures 11 %
Down-slanting palpebral fissures 4 %
Deep Set Eyes 3 %
Micrognathia 16 %
Asymmetric crying facies 8 %
Down-turned corners of the mouth 6 %
Thin Upper Lip 5 %