|
1
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
6
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
12
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
13
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
16
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
17
|
(HPO:0002654)
|
Multiple epiphyseal dysplasia |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
21
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
|
23
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
25
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
26
|
(HPO:0006167)
|
Prominent proximal interphalangeal joints |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
28
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
29
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
31
|
(OMIM)
|
V-shaped cleft palate |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Joint contractures, mild |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Small flat capital femoral epiphyses |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Mild coxa vara |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Flat, irregular epiphyses |
|
|
|
|
1 / 7739
|
|
36
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
37
|
(OMIM)
|
Brachymetacarpalia |
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
39
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
40
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
41
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
42
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|