|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0009776)
|
Adactyly |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
6
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
8
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0002992)
|
Abnormality of the tibia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
14
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0011927)
|
Short digit |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
17
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
18
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
19
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
20
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
21
|
(HPO:0001964)
|
Aplasia/Hypoplasia of metatarsal bones |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
23
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
24
|
(HPO:0003086)
|
Acromesomelia |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
|
26
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
27
|
(HPO:0005914)
|
Aplasia/Hypoplasia involving the metacarpal bones |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0006228)
|
Valgus hand deformity |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0006498)
|
Aplasia/Hypoplasia of the patella |
|
|
|
|
10 / 7739
|
|
30
|
(HPO:0008081)
|
Valgus foot deformity |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
32
|
(OMIM)
|
Average adult male height, 100.5cm |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Average adult female height, 99.5cm |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Limb reduction, especially distally (acromesomelia) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Legs shorter than arms |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Rudimentary carpal bones |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
38
|
(OMIM)
|
Fused tarsal bone |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
40
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
41
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
42
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|