1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
3
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
4
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
5
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
7
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
8
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
9
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
12
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
13
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
14
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
16
|
(HPO:0003042)
|
Elbow dislocation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
17
|
(HPO:0002967)
|
Cubitus valgus |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
49 / 7739
|
18
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
19
|
(HPO:0100795)
|
Abnormally straight spine |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
20
|
(HPO:0002816)
|
Genu recurvatum |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
22
|
(HPO:0000482)
|
Microcornea |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
23
|
(HPO:0000925)
|
Abnormality of the vertebral column |
|
|
|
|
20 / 7739
|
24
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
25
|
(HPO:0001191)
|
Abnormality of the carpal bones |
|
|
|
|
6 / 7739
|
26
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
27
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
28
|
(HPO:0001602)
|
Laryngeal stenosis |
|
|
|
|
21 / 7739
|
29
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
30
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
31
|
(HPO:0006247)
|
Enlarged interphalangeal joints |
|
|
|
|
2 / 7739
|
32
|
(HPO:0007311)
|
Short stepped shuffling gait |
|
|
|
|
3 / 7739
|
33
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
34
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
35
|
(OMIM)
|
Enlarged posterior neural arches of cervical vertebrae |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Bony overgrowth of the posterior arches |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Bony overgrowth of the vertebral bodies |
|
|
|
|
1 / 7739
|
38
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
39
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
40
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
41
|
(OMIM)
|
Broad thumbs in valgus position |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Spade-like hands |
|
|
|
|
1 / 7739
|
43
|
(HPO:0005830)
|
Flexion contracture of toe |
|
|
|
|
9 / 7739
|
44
|
(OMIM)
|
Hyaline changes |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Dense islands of connective tissue |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Fibrosis seen on biopsy |
|
|
|
|
2 / 7739
|
47
|
(OMIM)
|
Thick palmar fascia |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Thickening of fascia of forearm |
|
|
|
|
1 / 7739
|
49
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
50
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
51
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
53
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|