Core gestaltic features
|
Coarse facies
|
12 (100%)
|
0
|
Prominent or wide triangular shaped nasal tip
|
12 (100%)
|
3 (20%)
|
High arched or upsweeping eyebrows
|
11 (92%)
|
0
|
Full/everted lower lip
|
11 (92%)
|
5 (33%)
|
Bushy eyebrows
|
10 (83%)
|
3 (20%)
|
Other recurrent clinical features
|
Developmental delay/intellectual disability
|
12 (100%)
|
15 (100%)
|
Digital anomalies:
|
10 (83%)
|
6 (40%)
|
-of which short IV metatarsus
|
4 (33%)
|
0
|
Ear anomalies
|
9 (75%)
|
13 (87%)
|
Macrostomia
|
8 (67%)
|
1 (7%)
|
Smooth/simplified philtrum
|
7 (58%)
|
7 (47%)
|