|
1
|
(HPO:0003416)
|
Spinal canal stenosis |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
6
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
11
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
12
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0002945)
|
Intervertebral space narrowing |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
16
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
18
|
(HPO:0003952)
|
Sclerotic foci of metaphyses of the elbow |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0005004)
|
Flattened proximal radial epiphyses |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0008418)
|
Squared-off platyspondyly |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
22
|
(HPO:0100866)
|
Short iliac bones |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
|
24
|
(OMIM)
|
Short stature, disproportionate (short trunk), identifiable late childhood-early puberty |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
No corneal opacities |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Mild osteopenia |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Lateral extension of vertebral bodies beyond the pedicles |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Irregular vertebral end plates |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Occasional back pain |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Slightly short long bones |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Elevated urine unsulfated chondroitin sulfate |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|