|
1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
3
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
5
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
6
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
7
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
8
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
9
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
10
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
11
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
12
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
13
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
15
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
16
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0000476)
|
Cystic hygroma |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
20
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
21
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
22
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
23
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
24
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
25
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
26
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
|
27
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
28
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
29
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
|
|
|
|
18 / 7739
|
|
30
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
31
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|
|
32
|
(OMIM)
|
Fetal hydrops |
|
|
|
|
15 / 7739
|
|
33
|
(OMIM)
|
Short, thin ribs |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Occasional rib fractures |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Slightly less ossified than expected for gestational age |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Unossified ischium and pubis |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Severe micromelia |
|
|
|
|
5 / 7739
|
|
38
|
(OMIM)
|
Marked shortness, broad tubular bone |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0005054)
|
Metaphyseal spurs |
|
|
|
|
4 / 7739
|
|
40
|
(OMIM)
|
No cartilage staining with toluidine blue |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Impaired synthesis of fibroblast sulfated proteoglycans |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
43
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
44
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
45
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
46
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
48
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
49
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|