|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
10
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
11
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
12
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
14
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
15
|
(HPO:0100559)
|
Lower limb asymmetry |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
17
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
18
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
21
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
22
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
23
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
24
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
25
|
(OMIM)
|
Coarse bone trabeculations with areas of irregular, dense stippling and streaking |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Lace-like border of the iliac crests |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Normocephaly |
|
|
|
|
10 / 7739
|
|
28
|
(OMIM)
|
Dwarfism identifiable during late infancy |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Average adult height: 90 to 110 cm |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
31
|
(OMIM)
|
Severe genu valgum |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Legs twisted along the long axis |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
34
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|