|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
9
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
13
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
14
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
|
|
|
|
167 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
20
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
22
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
23
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
25
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
26
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
27
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
28
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
29
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
30
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
31
|
(HPO:0005042)
|
Irregular, rachitic-like metaphyses |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0006069)
|
Severe carpal ossification delay |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0008833)
|
Irregular acetabular roof |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Adult height 130-150 cm |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
36
|
(OMIM)
|
Sphenoid hypoplasia |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Open staircase vertebral bodies |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Medially places pedicles |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Vertebral bodies broader than interpedicular distance |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Square, short iliac wings |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Flaring of iliac wings |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Flat, irregular acetabula |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Supra-acetabular notches |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Mildly curved limbs (varus) |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
46
|
(OMIM)
|
Prominent joints |
|
|
|
|
4 / 7739
|
|
47
|
(OMIM)
|
Short, stubby hands |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Short, stubby feet |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
50
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
51
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|