| Gender |
|
|
| Male |
52.7% |
39/74 |
| Female |
47.3% |
35/74 |
| General |
|
|
| Birth Length abnormalities |
2.7% |
2/74 |
| > P98 : Birth length greater than 97th percentile |
2.7% |
2/74 |
| Birth Weight abnormalities |
0% |
0/74 |
| Birth Head circumference abnormalities |
0% |
0/74 |
| Current Height abnormalities |
39.2% |
29/74 |
| > P98 : Tall stature |
37.8% |
28/74 |
| < P3 : Short stature |
1.4% |
1/74 |
| Current Weight abnormalities |
2.7% |
2/74 |
| < P3 : Decreased body weight |
2.7% |
2/74 |
| Current Head circumference abnormalities |
0% |
0/74 |
| Neurology |
|
|
| Neurological abnormalities |
6.8% |
5/73 |
| Muscular hypotonia |
5.5% |
4/73 |
| Hemiparesis |
1.4% |
1/73 |
| Brain abnormality |
2.7% |
2/74 |
| Cerebral aneurysm |
1.4% |
1/74 |
| Intracranial hemorrhage |
1.4% |
1/74 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
2.7% |
2/74 |
| Low-set ears |
1.4% |
1/74 |
| Macrotia |
1.4% |
1/74 |
| Abnormality of the eye |
45.9% |
34/74 |
| Hypertelorism |
35.1% |
26/74 |
| Downslanted palpebral fissures |
18.9% |
14/74 |
| Blue sclerae |
8.1% |
6/74 |
| Proptosis |
4.1% |
3/74 |
| Ptosis |
2.7% |
2/74 |
| Amblyopia |
1.4% |
1/74 |
| Flat cornea |
1.4% |
1/74 |
| Abnormality of the nose |
2.7% |
2/74 |
| Long nose |
1.4% |
1/74 |
| Triangular nasal tip |
1.4% |
1/74 |
| Abnormality of the mouth |
70.3% |
52/74 |
| Bifid uvula |
37.8% |
28/74 |
| Retrognathia |
21.6% |
16/74 |
| High, narrow palate |
18.9% |
14/74 |
| Cleft palate |
13.5% |
10/74 |
| High palate |
10.8% |
8/74 |
| Dental crowding |
8.1% |
6/74 |
| Broad uvula |
2.7% |
2/74 |
| Narrow palate |
2.7% |
2/74 |
| Short chin |
2.7% |
2/74 |
| Smooth philtrum |
2.7% |
2/74 |
| Abnormality of the teeth |
1.4% |
1/74 |
| Overbite |
1.4% |
1/74 |
| Short philtrum |
1.4% |
1/74 |
| Thin vermilion border |
1.4% |
1/74 |
| Thin upper lip vermilion |
1.4% |
1/74 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
24.3% |
18/74 |
| Myopia |
17.6% |
13/74 |
| Cataract |
5.4% |
4/74 |
| Hypermetropia |
2.7% |
2/74 |
| Dyschromatopsia |
1.4% |
1/74 |
| Exotropia |
1.4% |
1/74 |
| Strabismus |
1.4% |
1/74 |
| Heart |
|
|
| Abnormality of the heart |
59.7% |
43/72 |
| Mitral valve prolapse |
16.7% |
12/72 |
| Aortic root dilatation |
15.3% |
11/72 |
| Thoracic aortic aneurysm |
12.5% |
9/72 |
| Aortic dissection |
9.7% |
7/72 |
| Mitral regurgitation |
9.7% |
7/72 |
| Sinus of Valsalva aneurysm |
4.2% |
3/72 |
| Varicose veins |
4.2% |
3/72 |
| Aneurysm |
2.8% |
2/72 |
| Aortic regurgitation |
2.8% |
2/72 |
| Aortic aneurysm |
2.8% |
2/72 |
| Ascending aortic dissection |
2.8% |
2/72 |
| Patent foramen ovale |
2.8% |
2/72 |
| Abdominal aortic aneurysm |
1.4% |
1/72 |
| Abnormality of the left ventricle |
1.4% |
1/72 |
| Aortic dilatation |
1.4% |
1/72 |
| Arrhythmia |
1.4% |
1/72 |
| Ascending aortic dilation |
1.4% |
1/72 |
| Atria septal defect |
1.4% |
1/72 |
| Carotid artery tortuosity |
1.4% |
1/72 |
| Descending aortic dissection |
1.4% |
1/72 |
| Dilatation of the descending thoracic aorta |
1.4% |
1/72 |
| Dilated cardiomyopathy |
1.4% |
1/72 |
| Paroxysmal supraventricular tachycardia |
1.4% |
1/72 |
| Right bundle branch block |
1.4% |
1/72 |
| Tricuspid valve prolapse |
1.4% |
1/72 |
| Tricuspid regurgitation |
1.4% |
1/72 |
| Ventricular septal defect |
1.4% |
1/72 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
2.7% |
2/74 |
| Chronic diarrhea |
1.4% |
1/74 |
| Hiatus hernia |
1.4% |
1/74 |
| Skeleton |
|
|
| Skeletal abnormalities |
82.4% |
61/74 |
| Arachnodactyly |
50.0% |
37/74 |
| Pes planus |
39.2% |
29/74 |
| Joint hypermobility |
32.4% |
24/74 |
| Scoliosis |
25.7% |
19/74 |
| Increased arm span |
18.9% |
14/74 |
| Pectus excavatum |
17.6% |
13/74 |
| Pectus carinatum |
12.2% |
9/74 |
| Decreased muscle mass |
6.8% |
5/74 |
| Dolichocephaly |
6.8% |
5/74 |
| Kyphoscoliosis |
6.8% |
5/74 |
| Joint laxity |
5.4% |
4/74 |
| Osteoarthritis |
5.4% |
4/74 |
| Talipes equinovarus |
5.4% |
4/74 |
| Abnormality of the sternum |
4.1% |
3/74 |
| Kyphosis |
4.1% |
3/74 |
| Spondylolisthesis |
4.1% |
3/74 |
| Bilateral coxa valga |
2.7% |
2/74 |
| Hallux valgus |
2.7% |
2/74 |
| Hip dysplasia |
2.7% |
2/74 |
| Osteoporosis |
2.7% |
2/74 |
| Pes cavus |
2.7% |
2/74 |
| Abnormality of the cervical spine |
1.4% |
1/74 |
| Abnormality of the breast |
1.4% |
1/74 |
| Camptodactyly of toe |
1.4% |
1/74 |
| Camptodactyly |
1.4% |
1/74 |
| Cervical spondylosis |
1.4% |
1/74 |
| Cervical ribs |
1.4% |
1/74 |
| Contractures of the proximal interphalangeal joint of the 5th toe |
1.4% |
1/74 |
| Contracture of the proximal interphalangeal joint of the 4th toe |
1.4% |
1/74 |
| Disproportionate tall stature |
1.4% |
1/74 |
| Frontal bossing |
1.4% |
1/74 |
| Generalized joint laxity |
1.4% |
1/74 |
| Genu valgum |
1.4% |
1/74 |
| Hammertoe |
1.4% |
1/74 |
| Herniation of intervertebral nuclei |
1.4% |
1/74 |
| Hip osteoarthritis |
1.4% |
1/74 |
| Inguinal hernia |
1.4% |
1/74 |
| Long toe |
1.4% |
1/74 |
| Long fingers |
1.4% |
1/74 |
| Metatarsus adductus |
1.4% |
1/74 |
| Prominent metopic ridge |
1.4% |
1/74 |
| Protrusio acetabuli |
1.4% |
1/74 |
| Short neck |
1.4% |
1/74 |
| Slender build |
1.4% |
1/74 |
| Thoracic kyphosis |
1.4% |
1/74 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
34.2% |
25/73 |
| Bruising susceptibility |
20.5% |
15/73 |
| Dermal translucency |
15.1% |
11/73 |
| Soft skin |
15.1% |
11/73 |
| Thin skin |
15.1% |
11/73 |
| Poor wound healing |
5.5% |
4/73 |
| Striae distensae |
5.5% |
4/73 |
| Hyperextensible skin |
2.7% |
2/73 |
| Angioedema |
1.4% |
1/73 |
| Reduced subcutaneous adipose tissue |
1.4% |
1/73 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
1.4% |
1/74 |
| Hypokalemia |
1.4% |
1/74 |
| Abnormality of the immune system |
1.4% |
1/74 |
| Autoimmune thrombocytopenia |
1.4% |
1/74 |