|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
3
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
11
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
12
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
13
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
14
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
15
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
18
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
19
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
20
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
23
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
26
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
27
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
28
|
(HPO:0001379)
|
Degenerative joint disease |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0001380)
|
Ligamentous laxity |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
31
|
(HPO:0002341)
|
Cervical cord compression |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
33
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
34
|
(HPO:0002816)
|
Genu recurvatum |
|
|
|
|
30 / 7739
|
|
35
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
36
|
(HPO:0003049)
|
Ulnar deviation of the wrist |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0003093)
|
Limited hip extension |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0003414)
|
Atlantoaxial dislocation |
|
|
|
|
5 / 7739
|
|
39
|
(HPO:0004236)
|
Irregular carpal bones |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
41
|
(HPO:0005063)
|
Fragmented, irregular epiphyses |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
43
|
(HPO:0009487)
|
Ulnar deviation of the hand |
|
|
|
|
5 / 7739
|
|
44
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
45
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
46
|
(HPO:0011405)
|
Childhood onset short-limb short stature |
|
|
|
|
2 / 7739
|
|
47
|
(HPO:0012307)
|
Spatulate ribs |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0100168)
|
Fragmented epiphyses |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Specific growth curves are available |
|
|
|
|
5 / 7739
|
|
50
|
(OMIM)
|
Adult height, 82-130 cm |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Normocephaly |
|
|
|
|
10 / 7739
|
|
52
|
(OMIM)
|
Normal |
|
|
|
|
14 / 7739
|
|
53
|
(OMIM)
|
Chondrocytes showed large lamellar dilatations of rough endoplasmic reticulum on electron microscopy |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Delayed ossification |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Limitations of joint function |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Severe osteoarthropathy |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Anterior flattening and/or beaking of vertebrae |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Irregular acetabulum |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Round ilium |
|
|
|
|
1 / 7739
|
|
60
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
61
|
(OMIM)
|
'Telescoping' fingers |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Irregular mushroomed metaphyses |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Limited elbow and hip extension |
|
|
|
|
2 / 7739
|
|
64
|
(OMIM)
|
Genu valgum, varum, and recurvatum |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Small, irregular carpals |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
67
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
68
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
69
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
70
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
71
|
(HPO:0002834)
|
Flared femoral metaphysis |
|
|
|
|
6 / 7739
|
|
72
|
(HPO:0004019)
|
Radial metaphyseal irregularity |
|
|
|
|
1 / 7739
|
|
73
|
(HPO:0004042)
|
Ulnar metaphyseal irregularity |
|
|
|
|
1 / 7739
|
|
74
|
(HPO:0010236)
|
Small epiphyses of the phalanges of the hand |
|
|
|
|
1 / 7739
|