1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
3
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
4
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
5
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
6
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
8
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
9
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
10
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0003027)
|
Mesomelia |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
13
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
14
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
16
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
19
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
20
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
21
|
(HPO:0001500)
|
Broad finger |
|
|
|
|
9 / 7739
|
22
|
(HPO:0001783)
|
Broad metatarsal |
|
|
|
|
9 / 7739
|
23
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
24
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
25
|
(HPO:0001847)
|
Long hallux |
|
|
|
|
13 / 7739
|
26
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
27
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
28
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
29
|
(HPO:0003086)
|
Acromesomelia |
|
|
|
|
3 / 7739
|
30
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
31
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
32
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
33
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
34
|
(HPO:0004633)
|
Lower thoracic kyphosis |
|
|
|
|
1 / 7739
|
35
|
(HPO:0005619)
|
Thoracolumbar kyphosis |
|
|
|
|
8 / 7739
|
36
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
37
|
(HPO:0007516)
|
Redundant skin on fingers |
|
|
|
|
1 / 7739
|
38
|
(HPO:0008484)
|
Thoracolumbar interpediculate narrowness |
|
|
|
|
1 / 7739
|
39
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
40
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
41
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
42
|
(OMIM)
|
Final adult height 38-49 inches |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Small-normal birth length |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
45
|
(MedDRA:10060042)
|
Head circumference normal |
|
|
|
|
5 / 7739
|
46
|
(OMIM)
|
Superiorly curved clavicles |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Bowed forearms |
|
|
|
|
2 / 7739
|
48
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
49
|
(OMIM)
|
Progressive shortening of humerus in first year |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Progressive shortening of radius in first year |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Progressive shortening of ulna in first year |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Broad, short fingers |
|
|
|
|
4 / 7739
|
53
|
(OMIM)
|
Short, broad metacarpals |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Short, broad phalanges |
|
|
|
|
3 / 7739
|
55
|
(OMIM)
|
Broad middle and proximal phalanges |
|
|
|
|
1 / 7739
|
56
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
57
|
(OMIM)
|
Short, broad metatarsal |
|
|
|
|
3 / 7739
|
58
|
(OMIM)
|
Loose, redundant skin on fingers |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
60
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|