| Gender |
|
|
| Male |
50.0% |
7/14 |
| Female |
50.0% |
7/14 |
| General |
|
|
| Birth Length abnormalities |
7.7% |
1/13 |
| < P3 : Birth length less than 3rd percentile |
7.7% |
1/13 |
| Birth Weight abnormalities |
7.7% |
1/13 |
| < P3 : Small for gestational age |
7.7% |
1/13 |
| Birth Head circumference abnormalities |
0% |
0/13 |
| Current Height abnormalities |
57.1% |
8/14 |
| < P3 : Short stature |
57.1% |
8/14 |
| Current Weight abnormalities |
35.7% |
5/14 |
| < P3 : Decreased body weight |
28.6% |
4/14 |
| > P98 : Increased body weight |
7.1% |
1/14 |
| Current Head circumference abnormalities |
28.6% |
4/14 |
| < P3 : Microcephaly |
28.6% |
4/14 |
| Neurology |
|
|
| Neurological abnormalities |
23.1% |
3/13 |
| Generalized hypotonia |
23.1% |
3/13 |
| Behavioral problems |
8.3% |
1/12 |
| Anxiety |
8.3% |
1/12 |
| Excessive shyness |
8.3% |
1/12 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
57.1% |
8/14 |
| obsolete Low-set, posteriorly rotated ears |
50.0% |
7/14 |
| Low-set ears |
7.1% |
1/14 |
| Abnormality of the eye |
21.4% |
3/14 |
| Downslanted palpebral fissures |
21.4% |
3/14 |
| Abnormality of the nose |
92.9% |
13/14 |
| Anteverted nares |
92.9% |
13/14 |
| Short nose |
92.9% |
13/14 |
| Long philtrum |
85.7% |
12/14 |
| Abnormality of the mouth |
92.3% |
12/13 |
| Thin upper lip vermilion |
84.6% |
11/13 |
| Dental crowding |
46.2% |
6/13 |
| High palate |
46.2% |
6/13 |
| obsolete Anterior open bite |
38.5% |
5/13 |
| Everted lower lip vermilion |
23.1% |
3/13 |
| Bifid uvula |
15.4% |
2/13 |
| Abnormality of dental eruption |
7.7% |
1/13 |
| Narrow palate |
7.7% |
1/13 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
30.8% |
4/13 |
| Conductive hearing impairment |
30.8% |
4/13 |
| Cholesteatoma |
7.7% |
1/13 |
| Heart |
|
|
| Abnormality of the heart |
63.6% |
7/11 |
| Transposition of the great arteries |
18.2% |
2/11 |
| Ebstein anomaly of the tricuspid valve |
9.1% |
1/11 |
| Palpitations |
9.1% |
1/11 |
| Paroxysmal supraventricular tachycardia |
9.1% |
1/11 |
| Perimembranous ventricular septal defect |
9.1% |
1/11 |
| Pulmonic stenosis |
9.1% |
1/11 |
| Wolff-Parkinson-White syndrome |
9.1% |
1/11 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
1/1 |
| Asthma |
100.0% |
1/1 |
| Skeleton |
|
|
| Skeletal abnormalities |
92.9% |
13/14 |
| Sandal gap |
57.1% |
8/14 |
| 11 pairs of ribs |
57.1% |
8/14 |
| Clinodactyly of the 5th finger |
28.6% |
4/14 |
| Short proximal phalanx of the 5th finger |
21.4% |
3/14 |
| Spondylolisthesis at L5-S1 |
21.4% |
3/14 |
| Limited pronation/supination of forearm |
14.3% |
2/14 |
| Pectus excavatum |
14.3% |
2/14 |
| Prominent sternum |
14.3% |
2/14 |
| Vertebral clefting |
14.3% |
2/14 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
7.1% |
1/14 |
| Brachydactyly |
7.1% |
1/14 |
| Cortical thickening of long bone diaphyses |
7.1% |
1/14 |
| Delayed closure of the anterior fontanelle |
7.1% |
1/14 |
| Delayed skeletal maturation |
7.1% |
1/14 |
| Hallux valgus |
7.1% |
1/14 |
| Hypoplastic scapulae |
7.1% |
1/14 |
| Hypoplastic ilia |
7.1% |
1/14 |
| Metacarpal pseudoepiphysis |
7.1% |
1/14 |
| Mild short stature |
7.1% |
1/14 |
| obsolete Fusion of midphalangeal joints |
7.1% |
1/14 |
| Osteopenia |
7.1% |
1/14 |
| Scoliosis |
7.1% |
1/14 |
| Short metacarpal |
7.1% |
1/14 |
| Short toe |
7.1% |
1/14 |
| Short 5th finger |
7.1% |
1/14 |
| Single interphalangeal crease of fifth finger |
7.1% |
1/14 |
| Small epiphyses of the distal phalanges of the hand |
7.1% |
1/14 |
| Spina bifida occulta |
7.1% |
1/14 |
| Thoracic scoliosis |
7.1% |
1/14 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
30.8% |
4/13 |
| Toenail dysplasia |
23.1% |
3/13 |
| Deep longitudinal plantar crease |
7.7% |
1/13 |
| Dystrophic toenail |
7.7% |
1/13 |
| Prominent fingertip pads |
7.7% |
1/13 |