|
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
|
- aFrequencies based on the literature review available [27]
- bFrequency based on the analysis of PMS individuals carrying SHANK3 point mutations [28]
- cHead circumference < 3rd percentile
- dHead circumference > 98th percentile
- eHeight < 3rd percentile
- fHeight > 98th percentile
