|
1
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
3
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
6
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
9
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
10
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0008812)
|
Flattened femoral head |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
14
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(OMIM)
|
Exaggerated lordosis |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Posterior double humps of vertebral body |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Irregular surface of iliac spine |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Mild odontoid hypoplasia |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Elevated shoulder joints |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Limited extension of elbow joints |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Broad femoral neck, mild |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Reduced trochanter and femur head distance ratio |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Irregular shallow acetabular roofs |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Metaphyseal irregularity of the upper tibia |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Flattened epiphysis of the lower tibia |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0003888)
|
Flattened humeral heads |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Broad metacarpal bones |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
30
|
(OMIM)
|
Broad interphalangeal joints |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Prominent heel |
|
|
|
|
5 / 7739
|
|
32
|
(OMIM)
|
Broad metatarsal bones |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|