Skip to main content

Table 4 Dysmorphic features in patients with Phelan–McDermid syndrome

From: A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Dysmorphic features N Total % Literature frequencya (%)
Microcephalyc 2 20 10 13
Macrocephalyd 1 20 5 7
Sparse eyebrows 3 21 14 18b
Long eyelashes 1 21 5 45
Periorbital fullness 5 21 24 45
Descending palpebral fissure 7 21 33  
Hypertelorism 3 21 14 36
Strabismus 6 21 29 26
Epicanthal folds 1 21 5 57
Wide nasal bridge 3 21 14 16
Large/wide nose 2 21 10  
Bulbous nose 3 21 14 80
Anteverted nares 1 21 5 9b
Full cheeks 1 21 5 25
High forehead 4 21 19  
Short philtrum 1 21 5 0b
Ear anomalies 5 21 24 54
Thick lower vermillion 3 21 14 27b
Down-turned mouth 3 21 14  
Short stature/delayed growthe 1 29 3 11
Tall stature/accelerated growthf 5 29 17 9
  1. aFrequencies based on the literature review available [27]
  2. bFrequency based on the analysis of PMS individuals carrying SHANK3 point mutations [28]
  3. cHead circumference < 3rd percentile
  4. dHead circumference > 98th percentile
  5. eHeight < 3rd percentile
  6. fHeight > 98th percentile