|
1
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
frequent [HPO:curators]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
4
|
(HPO:0009700)
|
Finger symphalangism |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
Common [HPO:curators]
|
|
|
|
288 / 7739
|
|
7
|
(HPO:0004684)
|
Talipes valgus |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
9
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0001762)
|
Talipes equinovarus |
occasional [HPO:curators]
|
|
|
|
309 / 7739
|
|
11
|
(HPO:0001772)
|
Talipes equinovalgus |
occasional [HPO:curators]
|
|
|
|
7 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
occasional [HPO:curators]
|
|
|
|
250 / 7739
|
|
13
|
(HPO:0003067)
|
Madelung deformity |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0005819)
|
Short middle phalanx of finger |
Hallmark [HPO:curators]
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0006206)
|
Hypersegmentation of proximal phalanx of second finger |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0009324)
|
Enlarged epiphysis of the middle phalanx of the 3rd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0009331)
|
Triangular epiphysis of the middle phalanx of the 3rd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0009349)
|
Enlarged epiphysis of the proximal phalanx of the 3rd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0009356)
|
Triangular epiphysis of the proximal phalanx of the 3rd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0009417)
|
Pseudoepiphyses of the 3rd finger |
Hallmark [HPO:curators]
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0009436)
|
Triangular shaped middle phalanx of the 3rd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0009456)
|
Triangular shaped proximal phalanx of the 3rd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0009461)
|
Short 3rd finger |
Hallmark [HPO:probinson]
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0009463)
|
Ulnar deviation of the 3rd finger |
Typical [HPO:curators]
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0009464)
|
Ulnar deviation of the 2nd finger |
Typical [HPO:curators]
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0009495)
|
Pseudoepiphyses of the 2nd finger |
Hallmark [HPO:curators]
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0009516)
|
Enlarged epiphysis of the middle phalanx of the 2nd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0009523)
|
Triangular epiphysis of the middle phalanx of the 2nd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0009527)
|
Enlarged epiphysis of the proximal phalanx of the 2nd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009534)
|
Triangular epiphysis of the proximal phalanx of the 2nd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0009536)
|
Short 2nd finger |
Hallmark [HPO:probinson]
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0009575)
|
Triangular shaped middle phalanx of the 2nd finger |
Common [HPO:curators]
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0009587)
|
Triangular shaped proximal phalanx of the 2nd finger |
Common [HPO:curators]
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0010034)
|
Short 1st metacarpal |
Common [HPO:curators]
|
|
|
|
19 / 7739
|
|
35
|
(HPO:0010259)
|
Cone-shaped epiphyses of the middle phalanges of the hand |
Hallmark [HPO:curators]
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
37
|
(HPO:0011929)
|
Hypersegmentation of proximal phalanx of third finger |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Limited flexion in distal interphalangeal joints |
|
|
|
|
1 / 7739
|
|
39
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
40
|
(OMIM)
|
Disproportionate shortening of 2nd and 3rd fingers |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Short 2nd, 3rd middle phalanges |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Ulnar deviation of 2nd, 3rd finger |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Hypersegmentation of proximal and middle 2nd, 3rd phalanges |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Short 1st, 4th, 5th metacarpals |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
46
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
47
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|