| Gender |
|
|
| Male |
72.7% |
8/11 |
| Female |
27.3% |
3/11 |
| General |
|
|
| Birth Length abnormalities |
27.3% |
3/11 |
| < P3 : Birth length less than 3rd percentile |
27.3% |
3/11 |
| Birth Weight abnormalities |
18.2% |
2/11 |
| < P3 : Small for gestational age |
18.2% |
2/11 |
| Birth Head circumference abnormalities |
9.1% |
1/11 |
| < P3 : Primary microcephaly |
9.1% |
1/11 |
| Current Height abnormalities |
63.6% |
7/11 |
| < P3 : Short stature |
63.6% |
7/11 |
| Current Weight abnormalities |
72.7% |
8/11 |
| < P3 : Decreased body weight |
72.7% |
8/11 |
| Current Head circumference abnormalities |
54.5% |
6/11 |
| < P3 : Microcephaly |
45.5% |
5/11 |
| > P98 : Macrocephaly |
9.1% |
1/11 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
5/5 |
| Broad-based gait |
40.0% |
2/5 |
| Autism |
20.0% |
1/5 |
| Generalized hypotonia |
20.0% |
1/5 |
| Muscle weakness |
20.0% |
1/5 |
| Behavioral problems |
100.0% |
4/4 |
| Hyperactivity |
50.0% |
2/4 |
| Overfriendliness |
25.0% |
1/4 |
| Short attention span |
25.0% |
1/4 |
| Brain abnormality |
62.5% |
5/8 |
| Agenesis of corpus callosum |
37.5% |
3/8 |
| Abnormal corpus callosum morphology |
25.0% |
2/8 |
| Cerebral atrophy |
12.5% |
1/8 |
| Holoprosencephaly |
12.5% |
1/8 |
| Hydrocephalus |
12.5% |
1/8 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
100.0% |
9/9 |
| obsolete Low-set, posteriorly rotated ears |
100.0% |
9/9 |
| Small earlobe |
22.2% |
2/9 |
| Angulated antihelix |
11.1% |
1/9 |
| Prominent antihelix |
11.1% |
1/9 |
| Abnormality of the eye |
100.0% |
10/10 |
| obsolete Prominent epicanthal folds |
80.0% |
8/10 |
| Telecanthus |
80.0% |
8/10 |
| Downslanted palpebral fissures |
40.0% |
4/10 |
| Hypertelorism |
20.0% |
2/10 |
| Ptosis |
20.0% |
2/10 |
| Upslanted palpebral fissure |
20.0% |
2/10 |
| Broad eyebrow |
10.0% |
1/10 |
| Myopia |
10.0% |
1/10 |
| Rod-cone dystrophy |
10.0% |
1/10 |
| Strabismus |
10.0% |
1/10 |
| Synophrys |
10.0% |
1/10 |
| Abnormality of the nose |
100.0% |
10/10 |
| Broad nasal tip |
80.0% |
8/10 |
| Depressed nasal bridge |
50.0% |
5/10 |
| Wide nasal bridge |
50.0% |
5/10 |
| Abnormality of the mouth |
100.0% |
11/11 |
| Long philtrum |
90.9% |
10/11 |
| High palate |
36.4% |
4/11 |
| Smooth philtrum |
36.4% |
4/11 |
| Short chin |
27.3% |
3/11 |
| Macrodontia |
18.2% |
2/11 |
| Pointed chin |
18.2% |
2/11 |
| Thin upper lip vermilion |
18.2% |
2/11 |
| Micrognathia |
9.1% |
1/11 |
| Narrow mouth |
9.1% |
1/11 |
| Solitary median maxillary central incisor |
9.1% |
1/11 |
| Thin lower lip vermilion |
9.1% |
1/11 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
50.0% |
1/2 |
| Sensorineural hearing impairment |
50.0% |
1/2 |
| Heart |
|
|
| Abnormality of the heart |
66.7% |
2/3 |
| Atrial septal defect |
33.3% |
1/3 |
| Left ventricular noncompaction cardiomyopathy |
33.3% |
1/3 |
| Pulmonary artery stenosis |
33.3% |
1/3 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
3/3 |
| Asthma |
33.3% |
1/3 |
| Pneumonia |
33.3% |
1/3 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
50.0% |
1/2 |
| Gastroesophageal reflux |
50.0% |
1/2 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
66.7% |
2/3 |
| Cryptorchidism |
33.3% |
1/3 |
| Multicystic kidney dysplasia |
33.3% |
1/3 |
| Shawl scrotum |
33.3% |
1/3 |
| Skeleton |
|
|
| Skeletal abnormalities |
90.0% |
9/10 |
| Small hand |
80.0% |
8/10 |
| Joint hypermobility |
40.0% |
4/10 |
| Pes planus |
40.0% |
4/10 |
| Torticollis |
20.0% |
2/10 |
| Abnormal coccyx morphology |
10.0% |
1/10 |
| Abnormality of the clivus |
10.0% |
1/10 |
| Anterior clefting of vertebral bodies |
10.0% |
1/10 |
| Atlantoaxial instability |
10.0% |
1/10 |
| Broad hallux |
10.0% |
1/10 |
| Cervical segmentation defect |
10.0% |
1/10 |
| Cervical C3/C4 vertebral fusion |
10.0% |
1/10 |
| Clinodactyly of the 5th finger |
10.0% |
1/10 |
| Fused cervical vertebrae |
10.0% |
1/10 |
| Generalized joint hypermobility |
10.0% |
1/10 |
| Mild postnatal growth retardation |
10.0% |
1/10 |
| Osteoporosis |
10.0% |
1/10 |
| Vertebral clefting |
10.0% |
1/10 |
| Vertebral fusion |
10.0% |
1/10 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
8/8 |
| Deep palmar crease |
50.0% |
4/8 |
| Skin rash |
37.5% |
3/8 |
| Cutis marmorata |
25.0% |
2/8 |
| Soft, doughy skin |
25.0% |
2/8 |
| Abnormal hair whorl |
12.5% |
1/8 |
| Hypertrichosis |
12.5% |
1/8 |
| Palmoplantar hyperkeratosis |
12.5% |
1/8 |
| Prominent umbilicus |
12.5% |
1/8 |
| Single transverse palmar crease |
12.5% |
1/8 |
| Thick hair |
12.5% |
1/8 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
60.0% |
3/5 |
| Hyperthyroidism |
40.0% |
2/5 |
| Recurrent lower respiratory tract infections |
40.0% |
2/5 |
| Recurrent upper respiratory tract infections |
20.0% |
1/5 |