|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
10
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
11
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
12
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
13
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
16
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
17
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
18
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
19
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
22
|
(HPO:0001241)
|
Capitate-hamate fusion |
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
24
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
|
25
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
27
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
28
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
29
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
30
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
31
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
|
32
|
(HPO:0009824)
|
Upper limb undergrowth |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
34
|
(OMIM)
|
Small sacrum |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Protruding iliac wings |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Severe epiphyseal hypoplasia |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Diaphyseal shortness |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
|
39
|
(OMIM)
|
Flat, broad feet |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Long second toe (in some patients) |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
42
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|