1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
2
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
3
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
5
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
6
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
7
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
9
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
10
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
11
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
12
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
13
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
14
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
15
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
16
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
17
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
18
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
19
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
20
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
21
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
22
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
23
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
24
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
25
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
26
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
27
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
28
|
(HPO:0004580)
|
Anterior scalloping of vertebral bodies |
|
|
|
|
2 / 7739
|
29
|
(HPO:0004634)
|
Cuboid-shaped vertebral bodies |
|
|
|
|
4 / 7739
|
30
|
(HPO:0005069)
|
Rhizo-meso-acromelic limb shortening |
|
|
|
|
1 / 7739
|
31
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
32
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
33
|
(HPO:0006108)
|
Tapered metacarpals |
|
|
|
|
1 / 7739
|
34
|
(HPO:0006192)
|
Tapered phalanx of finger |
|
|
|
|
1 / 7739
|
35
|
(HPO:0006216)
|
Single interphalangeal crease of fifth finger |
|
|
|
|
3 / 7739
|
36
|
(HPO:0007665)
|
Curly eyelashes |
|
|
|
|
6 / 7739
|
37
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
38
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
39
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
40
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
41
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
42
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
43
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
44
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
45
|
(OMIM)
|
Growth retardation, progressive |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Curly eyebrows |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Wide neck |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Thickened clavicles |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Joint contractures, mild |
|
|
|
|
3 / 7739
|
50
|
(OMIM)
|
Generalized epiphyseal ossification delay |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Lack of lumbar lordosis |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
53
|
(OMIM)
|
Limited pronation |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Limited supination |
|
|
|
|
2 / 7739
|
55
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
56
|
(OMIM)
|
Short, tapered phalanges |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Short, tapered metacarpals |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Brachymetacarpals |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Brachymetatarsals |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Abundant thick, curly scalp hair |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Abundant and curly eyelashes |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Abundant and curly eyebrows |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Increased hair on arms and legs |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Low-set nuchal hair |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
High-pitched, coarse voice |
|
|
|
|
1 / 7739
|
66
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
67
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|