|
1
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
2
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
3
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000922)
|
Posterior rib cupping |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
7
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0003085)
|
Long fibula |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0003275)
|
Narrow pelvis bone |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
20
|
(HPO:0003988)
|
Long ulna |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
22
|
(HPO:0004573)
|
Anterior wedging of T11 |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0004981)
|
Prominent styloid process of ulna |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0005066)
|
Cone-shaped epiphyses fused within their metaphyses |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
|
26
|
(HPO:0006059)
|
Cone-shaped metacarpal epiphyses |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0006371)
|
Broad long bone diaphyses |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0009486)
|
Radial deviation of the hand |
|
|
|
|
13 / 7739
|
|
29
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
30
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
31
|
(HPO:0011940)
|
Anterior wedging of T12 |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Severe short-trunked dwarfism (identifiable in early childhood) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
34
|
(OMIM)
|
Mild maxillary hypoplasia |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Mild odontoid hypoplasia |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Anterior vertebral tongue (infancy) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Wedge-shaped 11th or 12th thoracic vertebrae |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Hypoplastic iliac bone |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Femoral neck hypoplasia |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Moderate limitation of elbow extension |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Short, broad long bone diaphyses |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Underossified epiphyses |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
44
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
45
|
(OMIM)
|
Short, broad metacarpals and phalanges |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
47
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
48
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|