| Gender |
|
|
| Male |
49.1% |
26/53 |
| Female |
50.9% |
27/53 |
| Indifferent |
0% |
0/53 |
| Unknown |
0% |
0/53 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/87 |
| Birth Weight abnormalities |
0% |
0/87 |
| Birth Head circumference abnormalities |
0% |
0/87 |
| Current Height abnormalities |
0% |
0/87 |
| Current Weight abnormalities |
2.3% |
2/87 |
| < P3 : Decreased body weight |
2.3% |
2/87 |
| Current Head circumference abnormalities |
0% |
0/87 |
| Neurology |
|
|
| Neurological abnormalities |
62.1% |
18/29 |
| Muscular hypotonia |
55.2% |
16/29 |
| Dural ectasia |
13.8% |
4/29 |
| Headache |
3.4% |
1/29 |
| Hyporeflexia |
3.4% |
1/29 |
| Myelomeningocele |
3.4% |
1/29 |
| Spina bifida occulta |
3.4% |
1/29 |
| Spina bifida occulta at S1 |
3.4% |
1/29 |
| Syringomyelia |
3.4% |
1/29 |
| Tethered cord |
3.4% |
1/29 |
| Behavioral problems |
20.0% |
3/15 |
| Specific learning disability |
20.0% |
3/15 |
| Brain abnormality |
100.0% |
2/2 |
| Aplasia/Hypoplasia of the corpus callosum |
50.0% |
1/2 |
| Choroid plexus cyst |
50.0% |
1/2 |
| Dilation of lateral ventricles |
50.0% |
1/2 |
| Dilated third ventricle |
50.0% |
1/2 |
| Increased intracranial pressure |
50.0% |
1/2 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
46.0% |
23/50 |
| Low-set ears |
26.0% |
13/50 |
| Low-set, posteriorly rotated ears |
18.0% |
9/50 |
| Long ear |
2.0% |
1/50 |
| Long hairs growing from helix of pinna |
2.0% |
1/50 |
| Overfolded helix |
2.0% |
1/50 |
| Abnormality of the eye |
96.2% |
51/53 |
| Hypertelorism |
88.7% |
47/53 |
| Downslanted palpebral fissures |
86.8% |
46/53 |
| Proptosis |
67.9% |
36/53 |
| Deeply set eye |
5.7% |
3/53 |
| Blepharophimosis |
3.8% |
2/53 |
| Shallow orbits |
3.8% |
2/53 |
| Short palpebral fissure |
1.9% |
1/53 |
| Abnormality of the nose |
3.8% |
2/53 |
| Depressed nasal bridge |
3.8% |
2/53 |
| Abnormality of the mouth |
90.6% |
48/53 |
| High, narrow palate |
52.8% |
28/53 |
| Micrognathia |
37.7% |
20/53 |
| Abnormality of the mandible |
26.4% |
14/53 |
| Microretrognathia |
9.4% |
5/53 |
| High palate |
7.5% |
4/53 |
| Cleft palate |
5.7% |
3/53 |
| Retrognathia |
3.8% |
2/53 |
| Thin upper lip vermilion |
3.8% |
2/53 |
| Abnormality of the alveolar ridges |
1.9% |
1/53 |
| Abnormality of the uvula |
1.9% |
1/53 |
| Bifid uvula |
1.9% |
1/53 |
| Broad uvula |
1.9% |
1/53 |
| Dental malocclusion |
1.9% |
1/53 |
| Malar flattening |
1.9% |
1/53 |
| Mandibular prognathia |
1.9% |
1/53 |
| Tented upper lip vermilion |
1.9% |
1/53 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
19.2% |
10/52 |
| Myopia |
17.3% |
9/52 |
| Exotropia |
3.8% |
2/52 |
| Amblyopia |
1.9% |
1/52 |
| Cataract |
1.9% |
1/52 |
| Microcornea |
1.9% |
1/52 |
| Retinal detachment |
1.9% |
1/52 |
| Heart |
|
|
| Abnormality of the heart |
52.9% |
27/51 |
| Mitral valve prolapse |
31.4% |
16/51 |
| Aortic root dilatation |
27.5% |
14/51 |
| Ascending aortic dilation |
11.8% |
6/51 |
| Mitral regurgitation |
7.8% |
4/51 |
| Celiac artery aneurysm |
3.9% |
2/51 |
| Abnormality of the mitral valve |
2.0% |
1/51 |
| Arterial tortuosity |
2.0% |
1/51 |
| Myxomatous mitral valve degeneration |
2.0% |
1/51 |
| Premature calcification of mitral annulus |
2.0% |
1/51 |
| Tortuous cerebral arteries |
2.0% |
1/51 |
| Tricuspid regurgitation |
2.0% |
1/51 |
| Tricuspid valve prolapse |
2.0% |
1/51 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
53/53 |
| Arachnodactyly |
98.1% |
52/53 |
| Flexion contracture |
64.2% |
34/53 |
| Abnormality of the sternum |
58.5% |
31/53 |
| Scoliosis |
49.1% |
26/53 |
| Joint hypermobility |
45.3% |
24/53 |
| Camptodactyly |
37.7% |
20/53 |
| Pes planus |
20.8% |
11/53 |
| Disproportionate tall stature |
18.9% |
10/53 |
| Deformed tarsal bones |
15.1% |
8/53 |
| Pectus carinatum |
15.1% |
8/53 |
| C1-C2 vertebral abnormality |
9.4% |
5/53 |
| Abnormality of the vertebral column |
7.5% |
4/53 |
| Protrusio acetabuli |
7.5% |
4/53 |
| Camptodactyly of toe |
5.7% |
3/53 |
| Hallux valgus |
5.7% |
3/53 |
| Pectus excavatum |
5.7% |
3/53 |
| Bilateral talipes equinovarus |
3.8% |
2/53 |
| Long toe |
3.8% |
2/53 |
| Syndactyly |
3.8% |
2/53 |
| Thoracolumbar scoliosis |
3.8% |
2/53 |
| Basilar invagination |
1.9% |
1/53 |
| Camptodactyly of finger |
1.9% |
1/53 |
| Coxa valga |
1.9% |
1/53 |
| Delayed epiphyseal ossification |
1.9% |
1/53 |
| Flexion contracture of finger |
1.9% |
1/53 |
| Hallux varus |
1.9% |
1/53 |
| Hypermobility of interphalangeal joints |
1.9% |
1/53 |
| Hyperextensibility at wrists |
1.9% |
1/53 |
| Increased skull ossification |
1.9% |
1/53 |
| Joint laxity |
1.9% |
1/53 |
| Knee flexion contracture |
1.9% |
1/53 |
| Kyphoscoliosis |
1.9% |
1/53 |
| Limited elbow extension |
1.9% |
1/53 |
| Long foot |
1.9% |
1/53 |
| Long hallux |
1.9% |
1/53 |
| Metatarsus adductus |
1.9% |
1/53 |
| Narrow foot |
1.9% |
1/53 |
| Narrow iliac wings |
1.9% |
1/53 |
| Patellar subluxation |
1.9% |
1/53 |
| Pes cavus |
1.9% |
1/53 |
| Radioulnar synostosis |
1.9% |
1/53 |
| Talipes |
1.9% |
1/53 |
| Talipes equinovarus |
1.9% |
1/53 |
| Thickened calvaria |
1.9% |
1/53 |
| Wide anterior fontanel |
1.9% |
1/53 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
17.0% |
9/53 |
| Reduced subcutaneous adipose tissue |
13.2% |
7/53 |
| Blue nevus |
1.9% |
1/53 |
| Cutis marmorata |
1.9% |
1/53 |
| Cutis laxa |
1.9% |
1/53 |
| Decreased palmar creases |
1.9% |
1/53 |