| Gender |
|
|
| Male |
35.0% |
7/20 |
| Female |
65.0% |
13/20 |
| General |
|
|
| Birth Length abnormalities |
15.0% |
3/20 |
| < P3 : Birth length less than 3rd percentile |
10.0% |
2/20 |
| > P98 : Birth length greater than 97th percentile |
5.0% |
1/20 |
| Birth Weight abnormalities |
30.0% |
6/20 |
| < P3 : Small for gestational age |
30.0% |
6/20 |
| Birth Head circumference abnormalities |
15.0% |
3/20 |
| < P3 : Congenital microcephaly |
15.0% |
3/20 |
| Current Height abnormalities |
30.0% |
6/20 |
| < P3 : Short stature |
25.0% |
5/20 |
| > P98 : Tall stature |
5.0% |
1/20 |
| Current Weight abnormalities |
30.0% |
6/20 |
| < P3 : Decreased body weight |
25.0% |
5/20 |
| > P98 : Increased body weight |
5.0% |
1/20 |
| Current Head circumference abnormalities |
35.0% |
7/20 |
| < P3 : Microcephaly |
30.0% |
6/20 |
| > P98 : Macrocephaly |
5.0% |
1/20 |
| Neurology |
|
|
| Neurological abnormalities |
93.8% |
15/16 |
| Dysarthria |
43.8% |
7/16 |
| EEG abnormality |
43.8% |
7/16 |
| Seizures |
25.0% |
4/16 |
| Absent speech |
12.5% |
2/16 |
| Cerebral palsy |
12.5% |
2/16 |
| Focal seizures |
12.5% |
2/16 |
| Gait ataxia |
12.5% |
2/16 |
| Hyperreflexia |
12.5% |
2/16 |
| Absence seizures |
6.3% |
1/16 |
| Autism |
6.3% |
1/16 |
| Broad-based gait |
6.3% |
1/16 |
| Epileptic encephalopathy |
6.3% |
1/16 |
| Expressive language delay |
6.3% |
1/16 |
| Inability to walk |
6.3% |
1/16 |
| Receptive language delay |
6.3% |
1/16 |
| Spastic diplegia |
6.3% |
1/16 |
| Spasticity |
6.3% |
1/16 |
| Speech apraxia |
6.3% |
1/16 |
| Status epilepticus |
6.3% |
1/16 |
| Stereotypic behavior |
6.3% |
1/16 |
| Tremor |
6.3% |
1/16 |
| Behavioral problems |
100.0% |
3/3 |
| Aggressive behavior |
33.3% |
1/3 |
| Emotional lability |
33.3% |
1/3 |
| Impulsivity |
33.3% |
1/3 |
| Self-injurious behavior |
33.3% |
1/3 |
| Brain abnormality |
46.2% |
6/13 |
| Abnormality of the periventricular white matter |
15.4% |
2/13 |
| Abnormal cortical gyration |
7.7% |
1/13 |
| Cerebral atrophy |
7.7% |
1/13 |
| Periventricular leukomalacia |
7.7% |
1/13 |
| Ventriculomegaly |
7.7% |
1/13 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
100.0% |
4/4 |
| Abnormality of the outer ear |
25.0% |
1/4 |
| Abnormality of the pinna |
25.0% |
1/4 |
| Abnormality of the Eustachian tube |
25.0% |
1/4 |
| Asymmetry of the ears |
25.0% |
1/4 |
| Low-set ears |
25.0% |
1/4 |
| Abnormality of the eye |
100.0% |
3/3 |
| Astigmatism |
33.3% |
1/3 |
| Downslanted palpebral fissures |
33.3% |
1/3 |
| Epicanthus |
33.3% |
1/3 |
| Prominent epicanthal folds |
33.3% |
1/3 |
| Telecanthus |
33.3% |
1/3 |
| Upslanted palpebral fissure |
33.3% |
1/3 |
| Abnormality of the nose |
100.0% |
4/4 |
| Depressed nasal bridge |
50.0% |
2/4 |
| Abnormality of the columella |
25.0% |
1/4 |
| Anteverted nares |
25.0% |
1/4 |
| Bulbous nose |
25.0% |
1/4 |
| Wide nasal bridge |
25.0% |
1/4 |
| Abnormality of the mouth |
100.0% |
5/5 |
| Widely spaced teeth |
40.0% |
2/5 |
| Abnormality of the teeth |
20.0% |
1/5 |
| Dental malocclusion |
20.0% |
1/5 |
| Macrodontia |
20.0% |
1/5 |
| Macroglossia |
20.0% |
1/5 |
| Protruding tongue |
20.0% |
1/5 |
| Thin upper lip vermilion |
20.0% |
1/5 |
| Wide mouth |
20.0% |
1/5 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
90.0% |
9/10 |
| Strabismus |
50.0% |
5/10 |
| Exotropia |
30.0% |
3/10 |
| Astigmatism |
10.0% |
1/10 |
| Congenital strabismus |
10.0% |
1/10 |
| Esotropia |
10.0% |
1/10 |
| Hypermetropia |
10.0% |
1/10 |
| Nystagmus |
10.0% |
1/10 |
| Heart |
|
|
| Abnormality of the heart |
100.0% |
1/1 |
| Abnormality of the aorta |
100.0% |
1/1 |
| Abnormality of the left ventricle |
100.0% |
1/1 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
1/1 |
| Recurrent pneumonia |
100.0% |
1/1 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
73.3% |
11/15 |
| Feeding difficulties |
33.3% |
5/15 |
| Constipation |
26.7% |
4/15 |
| Gastroesophageal reflux |
20.0% |
3/15 |
| Dysphagia |
6.7% |
1/15 |
| Esophagitis |
6.7% |
1/15 |
| Esophageal stenosis |
6.7% |
1/15 |
| Growth delay |
6.7% |
1/15 |
| Hiatus hernia |
6.7% |
1/15 |
| Tracheoesophageal fistula |
6.7% |
1/15 |
| Weight loss |
6.7% |
1/15 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
47.1% |
8/17 |
| Abnormality of the genitourinary system |
52.9% |
9/17 |
| Hydronephrosis |
11.8% |
2/17 |
| Urinary incontinence |
11.8% |
2/17 |
| Ambiguous genitalia |
5.9% |
1/17 |
| Anal atresia |
5.9% |
1/17 |
| Aplasia of the bladder |
5.9% |
1/17 |
| Cloacal abnormality |
5.9% |
1/17 |
| Cryptorchidism |
5.9% |
1/17 |
| Cystic renal dysplasia |
5.9% |
1/17 |
| Enuresis |
5.9% |
1/17 |
| Hematuria |
5.9% |
1/17 |
| Recurrent urinary tract infections |
5.9% |
1/17 |
| Unilateral cryptorchidism |
5.9% |
1/17 |
| Skeleton |
|
|
| Skeletal abnormalities |
62.5% |
5/8 |
| Congenital contracture |
12.5% |
1/8 |
| Dislocated radial head |
12.5% |
1/8 |
| Hip contracture |
12.5% |
1/8 |
| Increased anterioposterior diameter of thorax |
12.5% |
1/8 |
| Joint laxity |
12.5% |
1/8 |
| Scoliosis |
12.5% |
1/8 |
| Talipes equinovarus |
12.5% |
1/8 |
| Thoracolumbar scoliosis |
12.5% |
1/8 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
4/4 |
| Extension of eyebrows towards upper eyelid |
25.0% |
1/4 |
| Long eyelashes |
25.0% |
1/4 |
| Sparse eyebrow |
25.0% |
1/4 |
| Synophrys |
25.0% |
1/4 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
100.0% |
2/2 |
| Abnormality of the anterior pituitary |
50.0% |
1/2 |
| Adrenocortical abnormality |
50.0% |
1/2 |
| Central hypothyroidism |
50.0% |
1/2 |
| Delayed puberty |
50.0% |
1/2 |
| Growth hormone deficiency |
50.0% |
1/2 |
| Hyperthyroidism |
50.0% |
1/2 |
| Hypogonadotrophic hypogonadism |
50.0% |
1/2 |
| Abnormality of the metabolic system |
33.3% |
1/3 |
| Hypoglycemia |
33.3% |
1/3 |