|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
3
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0100734)
|
Abnormality of vertebral epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
7
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
12
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
14
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
15
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
16
|
(HPO:0000339)
|
Pugilistic facies |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
18
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
19
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
20
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
21
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
22
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
24
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
25
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
26
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
27
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
28
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
29
|
(HPO:0004180)
|
Short distal phalanx of the 3rd finger |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0004227)
|
Short distal phalanx of the 5th finger |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0005068)
|
Absent styloid process of ulna |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0006110)
|
Shortening of all middle phalanges of the fingers |
|
|
|
|
7 / 7739
|
|
33
|
(HPO:0006144)
|
Shortening of all proximal phalanges of the fingers |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0009290)
|
Short distal phalanx of the 4th finger |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0009566)
|
Short distal phalanx of the 2nd finger |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
37
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
38
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
39
|
(HPO:0010454)
|
Acetabular spurs |
|
|
|
|
4 / 7739
|
|
40
|
(HPO:0004686)
|
Short third metatarsal |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
42
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
|
43
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
44
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
|
45
|
(OMIM)
|
Biconcave disc (fish-mouth vertebrae) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Short ilia |
|
|
|
|
3 / 7739
|
|
47
|
(OMIM)
|
Flattened capital femoral epiphyses |
|
|
|
|
5 / 7739
|
|
48
|
(OMIM)
|
Very short distal phalanges (2nd, 3rd, 4th, 5th) |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Broad, short thumbs |
|
|
|
|
4 / 7739
|
|
50
|
(OMIM)
|
Brachydactyly E-like changes |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Short proximal and middle phalanges |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
53
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|