|
1
|
(HPO:0003416)
|
Spinal canal stenosis |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
3
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
8
|
(HPO:0006487)
|
Bowing of the long bones |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
|
9
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
10
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
14
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
16
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
occasional [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
20
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
21
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
22
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
23
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
25
|
(HPO:0009815)
|
Aplasia/hypoplasia of the extremities |
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0011405)
|
Childhood onset short-limb short stature |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Final height, 125 to 160 cm |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Mild frontal bossing |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Normal/mild midface hypoplasia |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Variable lumbar lordosis |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Progressive narrowing of interpediculate distance in the lumbar vertebrate |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Short, squared ilia |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Short tubular bones with mild metaphyseal flare |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Bowleg |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Lack of trident hand helps distinguish it from achondroplasia |
|
|
|
|
1 / 7739
|
|
36
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
37
|
(OMIM)
|
Mental retardation, occasional |
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
42
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
43
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|