|
1
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
4
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
5
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0001789)
|
Hydrops fetalis |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
|
10
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
13
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
14
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
19
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
20
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
21
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
22
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
24
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
25
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
|
27
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
28
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
31
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0004591)
|
Disc-like vertebral bodies |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0005451)
|
Decreased cranial base ossification |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0005716)
|
Lethal skeletal dysplasia |
|
|
|
|
6 / 7739
|
|
35
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
36
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|
|
37
|
(HPO:0200083)
|
Severe limb shortening |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Short, thin ribs |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Luton type - hypercellular resting cartilage, normal and large cells, normal column formation, focal degenerating chondrocyte incorporation and focal disorganization |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Torrance type - Hypercellular resting cartilage, large cells, normal growth plate |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hypoplastic, wide sacrosciatic notches |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Short long tubular bones |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
44
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
45
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
46
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
47
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|