1
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
3
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
4
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
5
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
6
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
7
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
8
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
14
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
16
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
17
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
18
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
19
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
20
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
21
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
22
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
24
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
25
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
26
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
27
|
(HPO:0012368)
|
Flat face |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
28
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
29
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
30
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
31
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
32
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
33
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
34
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
35
|
(HPO:0003275)
|
Narrow pelvis bone |
|
|
|
|
8 / 7739
|
36
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
37
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
38
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
39
|
(HPO:0006059)
|
Cone-shaped metacarpal epiphyses |
|
|
|
|
3 / 7739
|
40
|
(HPO:0006205)
|
Irregular phalanges |
|
|
|
|
1 / 7739
|
41
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
42
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
43
|
(OMIM)
|
Elongated posterior clinoid processes |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Progressive coxa valga |
|
|
|
|
1 / 7739
|
45
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
46
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
47
|
(HPO:0009827)
|
Amelia |
|
|
|
|
12 / 7739
|
48
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
49
|
(OMIM)
|
Distal femoral and proximal tibial cup-shaped epiphyses |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Knee flexion |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Short, broad femurs |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Premature central epiphyso-metaphyseal fusion |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Mild humeral shortening |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Brachydactyly, severe |
|
|
|
|
4 / 7739
|
55
|
(OMIM)
|
Short, irregular phalanges |
|
|
|
|
1 / 7739
|
56
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
57
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
58
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
59
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
60
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
61
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
62
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|