1
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
2
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
4
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
6
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
7
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
8
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
10
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
12
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
13
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
14
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
15
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
16
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
17
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
18
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
19
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
20
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
21
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
22
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
23
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
24
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
25
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
26
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
27
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
28
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
29
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
30
|
(HPO:0001704)
|
Tricuspid valve prolapse |
|
|
|
|
2 / 7739
|
31
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
33
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
34
|
(HPO:0002097)
|
Emphysema |
Rare [HPO:probinson]
|
|
|
|
40 / 7739
|
35
|
(HPO:0002107)
|
Pneumothorax |
|
|
|
|
7 / 7739
|
36
|
(HPO:0002616)
|
Aortic root dilatation |
|
|
|
|
27 / 7739
|
37
|
(HPO:0002631)
|
Ascending aortic aneurysm |
|
|
|
|
9 / 7739
|
38
|
(HPO:0002647)
|
Aortic dissection |
|
|
|
|
14 / 7739
|
39
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
40
|
(HPO:0002816)
|
Genu recurvatum |
|
|
|
|
30 / 7739
|
41
|
(HPO:0003088)
|
Premature osteoarthritis |
|
|
|
|
10 / 7739
|
42
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
43
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
44
|
(HPO:0003302)
|
Spondylolisthesis |
|
|
|
|
14 / 7739
|
45
|
(HPO:0004872)
|
Incisional hernia |
|
|
|
|
2 / 7739
|
46
|
(HPO:0004927)
|
Pulmonary artery dilatation |
|
|
|
|
4 / 7739
|
47
|
(HPO:0005136)
|
Premature calcification of mitral annulus |
|
|
|
|
1 / 7739
|
48
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
49
|
(HPO:0007800)
|
Increased axial globe length |
|
|
|
|
3 / 7739
|
50
|
(HPO:0008132)
|
Medial rotation of the medial malleolus |
|
|
|
|
1 / 7739
|
51
|
(HPO:0100775)
|
Dural ectasia |
|
|
|
|
5 / 7739
|
52
|
(OMIM)
|
Mean length at birth 53 +/- 4.4 cm for males |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Mean length at birth 52.5 +/- 3.5 cm for females |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Mean adult height 191.3 +/- 9 cm for males |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Mean adult height 175.4 +/- 8.2 cm for females |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Disproportionate tall stature, upper to lower segment ratio less than 0.85 |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Arm span to height > 1.05 |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Puberty-associated peak in growth velocity is 2.4 years earlier for males and 2.2 years earlier for females |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
60
|
(OMIM)
|
Corneal flatness |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Early glaucoma |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Trabeculodysgenesis, primary (in some patients) |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Aneurysm of other aortic segments rare |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Emphysema in most severe presentation |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Pulmonary blebs |
|
|
|
|
2 / 7739
|
66
|
(OMIM)
|
Pectus asymmetric sternum |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Recurrent or incisional hernia |
|
|
|
|
1 / 7739
|
68
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
69
|
(OMIM)
|
Thoracic lordosis |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Lumbosacral dural ectasia |
|
|
|
|
1 / 7739
|
71
|
(OMIM)
|
Long bone overgrowth (dolichostenomelia) |
|
|
|
|
2 / 7739
|
72
|
(OMIM)
|
Long, narrow feet |
|
|
|
|
1 / 7739
|
73
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
74
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
75
|
(OMIM)
|
Decreased fibrillin-1 immunostaining in the dermis |
|
|
|
|
1 / 7739
|
76
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
77
|
(HPO:0000565)
|
Esotropia |
rare [HPO:skoehler]
|
|
|
|
58 / 7739
|
78
|
(HPO:0000577)
|
Exotropia |
rare [HPO:skoehler]
|
|
|
|
43 / 7739
|