|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
4
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
5
|
(HPO:0005108)
|
Abnormality of the intervertebral disk |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
10
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
12
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
14
|
(HPO:0100818)
|
Long thorax |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
16
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
17
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
18
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
21
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
23
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
24
|
(HPO:0001989)
|
Fetal akinesia sequence |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
25
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
26
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0002766)
|
Relatively short spine |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0002810)
|
Dumbbell-shaped metaphyses |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0002822)
|
Hyperplasia of the femoral trochanters |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0002825)
|
Caudal appendage |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0002826)
|
Halberd-shaped pelvis |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0002831)
|
Long coccyx |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0002834)
|
Flared femoral metaphysis |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0002879)
|
Anisospondyly |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0003332)
|
Absent primary metaphyseal spongiosa |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0003336)
|
Abnormal enchondral ossification |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
38
|
(HPO:0003562)
|
Abnormal metaphyseal vascular invasion |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0003911)
|
Flared humeral metaphysis |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
41
|
(OMIM)
|
Dwarfism, short limbed, recognizable at birth |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Exuberant cartilage formation in the trachea and bronchi |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Short ribs with cupped ends |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Arthrogryoposis multiplex (in some patients) |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
46
|
(OMIM)
|
Scoliosis, severe |
|
|
|
|
3 / 7739
|
|
47
|
(OMIM)
|
Severe kyphosis |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Vertebral bodies broader than interpedicular distance |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Supra-acetabular notches |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Flared femurs and humeri |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Prominent joints |
|
|
|
|
4 / 7739
|
|
52
|
(OMIM)
|
A thin seal of bone at the chondroosseous junction |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Arrest of endochondral ring structures with persistence of circumferential growth |
|
|
|
|
1 / 7739
|
|
54
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
55
|
(OMIM)
|
Delayed carpal age |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
57
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
58
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
59
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
60
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
61
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
62
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
63
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
64
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|