|
Dysmorphic feature
|
Nesslinger et al. [[35]]
|
Phelan et al. [[27]]a
|
Luciani et al. [[33]]
|
Manning et al. [[34]]
|
Koolen et al. [[32]]
|
Jeffries et al. [[31]]
|
Cusmano-Ozog et al. [[41]]a
|
Dhar et al. [[30]]
|
Rollins [[38]]a
|
Denayer et al. [[29]]
|
Sarasua et al. [[40]]a
|
Soorya et al. [[37]]
|
Sarasua et al. [[39]]a
|
Average (%)
|
|---|
|
n= 7
|
n= 37
|
n= 33
|
n= 11
|
n= 9
|
n= 30
|
n= 107
|
n= 13
|
n= 43
|
n= 7
|
n= 54
|
n= 32
|
n= 201
|
|---|
|
Sparse hair/abnormal whorl
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
16% (5/32)
|
n/a
|
16
|
|
Macrocephaly
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
7% (2/30)
|
n/a
|
n/a
|
21% (9/43)
|
n/a
|
23% (11/47)
|
31% (10/32)
|
18% (20/110)
|
17
|
|
Microcephaly
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
13% (4/30)
|
n/a
|
n/a
|
11% (5/43)
|
n/a
|
14% (6/42)
|
6% (2/32)
|
11% (12/110)
|
12
|
|
Dolichocephaly
|
86% (6/7)
|
57% (21/37)
|
n/a
|
n/a
|
0% (0/9)
|
23% (7/30)
|
30% (32/107)
|
n/a
|
n/a
|
n/a
|
30% (16/54)
|
25% (8/32)
|
32% (36/113)
|
37
|
|
Periorbital fullness
|
n/a
|
n/a
|
n/a
|
45% (5/11)
|
n/a
|
60% (18/30)
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
25% (8/32)
|
55% (60/109)
|
46
|
|
Epicanthal folds
|
57% (4/7)
|
41% (15/37)
|
n/a
|
73% (8/11)
|
n/a
|
37% (11/30)
|
30% (32/107)
|
70% (9/13)
|
n/a
|
n/a
|
n/a
|
31% (10/32)
|
47% (52/111)
|
48
|
|
Ptosis
|
43% (3/7)
|
57% (21/37)
|
n/a
|
n/a
|
0%
|
n/a
|
23% (25/107)
|
n/a
|
n/a
|
n/a
|
n/a
|
3% (1/32)
|
47% (53/112)
|
29
|
|
Deep set eyes
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
14% (1/7)
|
n/a
|
6% (2/32)
|
31% (34/111)
|
19
|
|
Long eyelashes
|
n/a
|
n/a
|
n/a
|
45% (5/11)
|
n/a
|
37% (11/30)
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
44% (14/32)
|
93% (105/113)
|
58
|
|
Hypertelorism
|
n/a
|
n/a
|
n/a
|
36% (4/11)
|
n/a
|
17% (5/30)
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
13% (4/32)
|
n/a
|
22
|
|
Wide nasal bridge
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
16% (5/32)
|
n/a
|
16
|
|
Bulbous nose
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
80% (24/30)
|
n/a
|
70% (9/13)
|
n/a
|
n/a
|
61% (33/54)
|
47% (15/32)
|
n/a
|
65
|
|
Low set ears
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
7% (2/30)
|
n/a
|
n/a
|
n/a
|
14% (1/7)
|
n/a
|
3% (1/32)
|
n/a
|
5
|
|
Ear anomalies
|
86% (6/7)
|
65% (24/37)
|
82% (27/33)
|
27% (3/11)
|
67% (6/9)
|
73% (22/30)
|
54% (58/107)
|
70% (9/13)
|
n/a
|
n/a
|
n/a
|
41% (13/32)
|
n/a
|
63
|
|
Full lips
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
31% (10/32)
|
n/a
|
31
|
|
High arched palate
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
25% (8/32)
|
47% (49/104)
|
36
|
|
Long philtrum
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
16% (5/32)
|
n/a
|
16
|
|
Malocclusion/widely spaced teeth
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
19% (6/32)
|
n/a
|
19
|
|
Micrognathia
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
10% (3/30)
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
13% (4/32)
|
n/a
|
12
|
|
Full cheeks
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
25% (8/32)
|
n/a
|
25
|
|
Malar hypoplasia
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
9% (3/32)
|
n/a
|
9
|
|
Flat midface
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
3% (1/32)
|
n/a
|
3
|
|
Pointed chin
|
n/a
|
62% (23/37)
|
n/a
|
n/a
|
56% (5/9)
|
n/a
|
27% (29/107)
|
n/a
|
n/a
|
n/a
|
n/a
|
22% (7/32)
|
52% (58/111)
|
44
|
|
Fifth finger clinodactyly
|
n/a
|
14% (5/37)
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
9% (3/32)
|
n/a
|
12
|
|
Large fleshy hands
|
n/a
|
68% (25/37)
|
n/a
|
n/a
|
56% (5/9)
|
47% (14/30)
|
33% (35/107)
|
46% (6/13)
|
n/a
|
n/a
|
55% (29/53)
|
53% (17/32)
|
63% (71/112)
|
53
|
|
Hypoplastic/dysplastic nails
|
n/a
|
78% (29/37)
|
n/a
|
27% (3/11)
|
56% (5/9)
|
3% (1/30)
|
36% (39/107)
|
23% (3/13)
|
n/a
|
n/a
|
75% (40/53)
|
34% (11/32)
|
73% (81/111)
|
45
|
|
Hyper-extensibility
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
25% (8/32)
|
61% (68/111)
|
86
|
|
Abnormal spine curvature
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
22% (7/32)
|
n/a
|
22
|
|
Sacral dimple
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
n/a
|
37% (19/52)
|
13% (4/32)
|
n/a
|
25
|
|
Syndactyly of toes 2 and 3
|
n/a
|
38% (14/37)
|
n/a
|
45% (5/11)
|
n/a
|
43% (13/30)
|
23% (25/107)
|
n/a
|
n/a
|
n/a
|
n/a
|
9% (3/32)
|
48% (53/110)
|
34
|
- n/a = not available.
- aThese studies included cases previously reported in the literature and their samples overlap, at least partially.
