1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0010044)
|
Short 4th metacarpal |
|
|
|
|
14 / 7739
|
3
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
4
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
5
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
6
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
7
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
9
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
10
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
11
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
12
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
13
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
14
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
16
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
18
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
19
|
(HPO:0001191)
|
Abnormality of the carpal bones |
|
|
|
|
6 / 7739
|
20
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
21
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
22
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
23
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
24
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
25
|
(HPO:0003067)
|
Madelung deformity |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
26
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
29
|
(HPO:0100777)
|
Exostoses |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
30
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
31
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
32
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
33
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
34
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
35
|
(HPO:0001832)
|
Abnormality of the metatarsal bones |
|
|
|
|
1 / 7739
|
36
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
37
|
(HPO:0002762)
|
Multiple exostoses |
|
|
|
|
6 / 7739
|
38
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
39
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
40
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
41
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
42
|
(HPO:0003102)
|
Increased carrying angle |
|
|
|
|
3 / 7739
|
43
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
44
|
(HPO:0006248)
|
Limited wrist movement |
|
|
|
|
2 / 7739
|
45
|
(HPO:0006459)
|
Dorsal subluxation of ulna |
|
|
|
|
2 / 7739
|
46
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
47
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
48
|
(OMIM)
|
Adult height 135cm to normal |
|
|
|
|
2 / 7739
|
49
|
(OMIM)
|
Bowing of the radii |
|
|
|
|
3 / 7739
|
50
|
(OMIM)
|
Short, mildly curved tibia |
|
|
|
|
2 / 7739
|
51
|
(OMIM)
|
Limited wrist mobility |
|
|
|
|
2 / 7739
|
52
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
53
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
54
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
55
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
56
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|