1
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
12624140
|
IBIS
|
60 / 7739
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
12624140
|
IBIS
|
136 / 7739
|
3
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
4
|
(HPO:0003097)
|
Short femur |
|
|
12624140
|
IBIS
|
13 / 7739
|
5
|
(HPO:0010049)
|
Short metacarpal |
|
|
12624140
|
IBIS
|
99 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
12624140
|
IBIS
|
244 / 7739
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
8
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
9
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
12624140
|
IBIS
|
73 / 7739
|
10
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0000773)
|
Short ribs |
|
|
12624140
|
IBIS
|
70 / 7739
|
13
|
(HPO:0005257)
|
Thoracic hypoplasia |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
14
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
15
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
|
|
12624140
|
IBIS
|
167 / 7739
|
16
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
17
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
12624140
|
IBIS
|
44 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
12624140
|
IBIS
|
705 / 7739
|
19
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
20
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
12624140
|
IBIS
|
30 / 7739
|
21
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
22
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
23
|
(HPO:0002812)
|
Coxa vara |
|
|
12624140
|
IBIS
|
58 / 7739
|
24
|
(HPO:0000887)
|
Cupped ribs |
|
|
12624140
|
IBIS
|
9 / 7739
|
25
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
26
|
(HPO:0001821)
|
Broad nail |
|
|
12624140
|
IBIS
|
5 / 7739
|
27
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
12624140
|
IBIS
|
34 / 7739
|
28
|
(HPO:0002869)
|
Flared iliac wings |
|
|
12624140
|
IBIS
|
20 / 7739
|
29
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
12624140
|
IBIS
|
44 / 7739
|
30
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
12624140
|
IBIS
|
40 / 7739
|
31
|
(HPO:0003099)
|
Fibular overgrowth |
|
|
12624140
|
IBIS
|
2 / 7739
|
32
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
12624140
|
IBIS
|
21 / 7739
|
33
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
12624140
|
IBIS
|
28 / 7739
|
34
|
(HPO:0005736)
|
Short tibia |
|
|
12624140
|
IBIS
|
19 / 7739
|
35
|
(HPO:0005792)
|
Short humerus |
|
|
12624140
|
IBIS
|
34 / 7739
|
36
|
(HPO:0006438)
|
Enlargement of the distal femoral epiphysis |
|
|
12624140
|
IBIS
|
1 / 7739
|
37
|
(HPO:0008789)
|
Cone-shaped capital femoral epiphysis |
|
|
12624140
|
IBIS
|
2 / 7739
|
38
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
39
|
(HPO:0009638)
|
Short proximal phalanx of thumb |
|
|
12624140
|
IBIS
|
4 / 7739
|
40
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
12624140
|
IBIS
|
125 / 7739
|
41
|
(HPO:0010017)
|
Cone-shaped epiphysis of the 1st metacarpal |
|
|
12624140
|
IBIS
|
1 / 7739
|
42
|
(HPO:0010241)
|
Short proximal phalanx of finger |
|
|
12624140
|
IBIS
|
4 / 7739
|
43
|
(HPO:0010575)
|
Dysplasia of the femoral head |
|
|
12624140
|
IBIS
|
1 / 7739
|
44
|
(HPO:0100864)
|
Short femoral neck |
|
|
12624140
|
IBIS
|
36 / 7739
|
45
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
46
|
(OMIM)
|
Anterior notching of vertebral bodies |
|
|
|
|
1 / 7739
|
47
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
48
|
(OMIM)
|
Egg-shaped femoral head |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Short, flared iliac wings |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
51
|
(OMIM)
|
Varus deformity (humeral head) |
|
|
|
|
1 / 7739
|
52
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
53
|
(OMIM)
|
Short middle and distal phalanges |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Small finger nails |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
56
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
57
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
59
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|