|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0001591)
|
Bell-shaped thorax |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
4
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
9
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
10
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
11
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
12
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
13
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
16
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
17
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
19
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
21
|
(HPO:0003918)
|
Sclerotic humeral metaphysis |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0004699)
|
Osteoporotic metatarsal |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0004979)
|
Metaphyseal sclerosis |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0005041)
|
Irregular capital femoral epiphysis |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0006369)
|
Irregular patellae |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0006623)
|
Costochondral joint sclerosis |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0008076)
|
Osteoporotic tarsals |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
29
|
(HPO:0100865)
|
Broad ischia |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Widened, sclerotic costochondral joints |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Widened, irregular, sclerotic metaphyses (humeri, radii, ulnae, femoral neck) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Anterior tongue-like deformity |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Short iliac wings |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Small, irregular capital femoral epiphyses |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Bipartite trochlea |
|
|
|
|
1 / 7739
|
|
36
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
38
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|