1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
3
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
4
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
5
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
6
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
8
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
9
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
10
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
11
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
12
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
13
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
14
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
15
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
16
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
17
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
18
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
19
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
20
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
21
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
22
|
(HPO:0004566)
|
Pear-shaped vertebrae |
|
|
|
|
3 / 7739
|
23
|
(HPO:0006603)
|
Flared, irregular rib ends |
|
|
|
|
2 / 7739
|
24
|
(HPO:0008476)
|
Irregular sclerotic endplates |
|
|
|
|
3 / 7739
|
25
|
(OMIM)
|
Adult male height 167-173cm |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Adult female height 152-167cm |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Normal odontoid process |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
29
|
(OMIM)
|
Schmorl nodule appearance (thoracolumbar vertebrae, adults) |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Small flattened epiphyses (distal femora and proximal tibiae) |
|
|
|
|
3 / 7739
|
31
|
(OMIM)
|
Rhizomelic shortening |
|
|
|
|
12 / 7739
|
32
|
(HPO:0008905)
|
Rhizomelia |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|