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Table 4 Dysmorphic features identified in the clinical genetic evaluation (N = 32)

From: Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

Dysmorphic features N % Estimated frequency from previous reports[50]
Large, fleshy hands 17 53 >50%
Bulbous nose 15 47 >50%
Long eyelashes 14 44 >50%
Ear anomalies 13 41 >50%
Hypoplastic/dysplastic nails 11 34 >50%
Full lips 10 31  
Epicanthal folds 10 31 >25%
Macrocephalya 10 31  
Dolichocephaly 8 25 >50%
High arched palate 8 25 >25%
Hyperextensibility 8 25  
Full cheeks 8 25 >50%
Periorbital fullness 8 25 >50%
Pointed chin 7 22 >50%
Abnormal spine curvature 7 22  
Wide nasal bridge 5 16 >50%
Long philtrum 5 16 >25%
Sparse hair/abnormal whorl 5 16  
Malocclusion/widely spaced teeth 6 19 >25%
Micrognathia 4 13  
Hypertelorism 4 13  
Short statureb 4 13  
Sacral dimple 4 13 >50%
Syndactyly of toes 2 and 3 3 9  
Malar hypoplasia 3 9  
Fifth finger clinodactyly 3 9 <14%
Microcephalyc 2 6  
Deep set eyes 2 6 >50%
Accelerated growthd 1 3  
Flat midface 1 3 >50%
Ptosis 1 3 >25%
Low set ears 1 3  
  1. a defined as head circumference >97th percentile; b defined as height <3rd percentile; c defined as head circumference <3rd percentile; d defined as height >95th percentile.