Gender |
|
|
Male |
61.5% |
16/26 |
Female |
38.5% |
10/26 |
Indifferent |
0% |
0/26 |
Unknown |
0% |
0/26 |
General |
|
|
Birth Length abnormalities |
7.7% |
2/26 |
< P3 : Birth length less than 3rd percentile |
7.7% |
2/26 |
Birth Weight abnormalities |
19.2% |
5/26 |
< P3 : Small for gestational age |
19.2% |
5/26 |
Birth Head circumference abnormalities |
15.4% |
4/26 |
< P3 : Congenital microcephaly |
15.4% |
4/26 |
Current Height abnormalities |
15.4% |
4/26 |
> P98 : Tall stature |
3.8% |
1/26 |
< P3 : Short stature |
11.5% |
3/26 |
Current Weight abnormalities |
26.9% |
7/26 |
< P3 : Decreased body weight |
23.1% |
6/26 |
> P98 : Increased body weight |
3.8% |
1/26 |
Current Head circumference abnormalities |
30.8% |
8/26 |
< P3 : Microcephaly |
26.9% |
7/26 |
> P98 : Macrocephaly |
3.8% |
1/26 |
Neurology |
|
|
Neurological abnormalities |
81.8% |
18/22 |
Generalized hypotonia |
36.4% |
8/22 |
Ataxia |
18.2% |
4/22 |
Absence seizures |
9.1% |
2/22 |
Delayed speech and language development |
9.1% |
2/22 |
EEG abnormality |
9.1% |
2/22 |
Intellectual disability, moderate |
9.1% |
2/22 |
Seizures |
9.1% |
2/22 |
Absent speech |
4.5% |
1/22 |
Broad-based gait |
4.5% |
1/22 |
Central hypotonia |
4.5% |
1/22 |
Delayed closure of the anterior fontanelle |
4.5% |
1/22 |
Epileptic spasms |
4.5% |
1/22 |
Gait imbalance |
4.5% |
1/22 |
Generalized tonic seizures |
4.5% |
1/22 |
Generalized seizures |
4.5% |
1/22 |
Global developmental delay |
4.5% |
1/22 |
Hearing impairment |
4.5% |
1/22 |
Horizontal nystagmus |
4.5% |
1/22 |
Intellectual disability |
4.5% |
1/22 |
Oromotor apraxia |
4.5% |
1/22 |
Spastic gait |
4.5% |
1/22 |
Specific learning disability |
4.5% |
1/22 |
Tremor by anatomical site |
4.5% |
1/22 |
Visual impairment |
4.5% |
1/22 |
Behavioral problems |
57.7% |
15/26 |
Attention deficit hyperactivity disorder |
15.4% |
4/26 |
Autistic behavior |
11.5% |
3/26 |
Behavioral abnormality |
11.5% |
3/26 |
Autism |
7.7% |
2/26 |
Fatigue |
7.7% |
2/26 |
Self-injurious behavior |
7.7% |
2/26 |
Sleep disturbance |
7.7% |
2/26 |
Abnormal social behavior |
3.8% |
1/26 |
Aggressive behavior |
3.8% |
1/26 |
Anxiety |
3.8% |
1/26 |
Depression |
3.8% |
1/26 |
Difficulty walking |
3.8% |
1/26 |
Emotional lability |
3.8% |
1/26 |
Hyperactivity |
3.8% |
1/26 |
Impaired social interactions |
3.8% |
1/26 |
Low frustration tolerance |
3.8% |
1/26 |
Restrictive behavior |
3.8% |
1/26 |
Short attention span |
3.8% |
1/26 |
Shyness |
3.8% |
1/26 |
Sleep apnea |
3.8% |
1/26 |
Stereotypical hand wringing |
3.8% |
1/26 |
Brain abnormality |
70.0% |
14/20 |
Hypoplasia of the corpus callosum |
30.0% |
6/20 |
Abnormality of the periventricular white matter |
5.0% |
1/20 |
Abnormality of the cerebral ventricles |
5.0% |
1/20 |
Aplasia/Hypoplasia of the cerebral white matter |
5.0% |
1/20 |
Arachnoid cyst |
5.0% |
1/20 |
Asymmetric ventricles |
5.0% |
1/20 |
Brainstem dysplasia |
5.0% |
1/20 |
Brain abscess |
5.0% |
1/20 |
Cavum septum pellucidum |
5.0% |
1/20 |
Cerebellar atrophy |
5.0% |
1/20 |
Cerebellar hypoplasia |
5.0% |
1/20 |
Cerebral ischemia |
5.0% |
1/20 |
Cortical dysplasia |
5.0% |
1/20 |
Diffuse cerebral atrophy |
5.0% |
1/20 |
Dilation of lateral ventricles |
5.0% |
1/20 |
EEG abnormality |
5.0% |
1/20 |
Frontal cortical atrophy |
5.0% |
1/20 |
Global brain atrophy |
5.0% |
1/20 |
Microcephaly |
5.0% |
1/20 |
Partial agenesis of the corpus callosum |
5.0% |
1/20 |
Periventricular cysts |
5.0% |
1/20 |
Perivascular spaces |
5.0% |
1/20 |
Periventricular leukomalacia |
5.0% |
1/20 |
Facial abnormalities |
|
|
Abnormality of the ear |
25.0% |
4/16 |
Abnormality of the outer ear |
6.3% |
1/16 |
Large fleshy ears |
6.3% |
1/16 |
Posteriorly rotated ears |
6.3% |
1/16 |
Abnormality of the eye |
46.7% |
7/15 |
Hypotelorism |
13.3% |
2/15 |
Upslanted palpebral fissure |
13.3% |
2/15 |
Blue sclerae |
6.7% |
1/15 |
Blue irides |
6.7% |
1/15 |
Hypermetropia |
6.7% |
1/15 |
Long eyelashes |
6.7% |
1/15 |
Long palpebral fissure |
6.7% |
1/15 |
Thick eyebrow |
6.7% |
1/15 |
Abnormality of the nose |
33.3% |
5/15 |
Anteverted nares |
13.3% |
2/15 |
Broad nasal tip |
6.7% |
1/15 |
Convex nasal ridge |
6.7% |
1/15 |
Long nose |
6.7% |
1/15 |
Narrow nose |
6.7% |
1/15 |
Prominent nose |
6.7% |
1/15 |
Wide nasal ridge |
6.7% |
1/15 |
Abnormality of the mouth |
43.8% |
7/16 |
High palate |
12.5% |
2/16 |
Smooth philtrum |
12.5% |
2/16 |
Dental crowding |
6.3% |
1/16 |
Gingival overgrowth |
6.3% |
1/16 |
Macrodontia of permanent maxillary central incisor |
6.3% |
1/16 |
Narrow mouth |
6.3% |
1/16 |
Narrow palate |
6.3% |
1/16 |
Open mouth |
6.3% |
1/16 |
Oromotor apraxia |
6.3% |
1/16 |
Short uvula |
6.3% |
1/16 |
Thick lower lip vermilion |
6.3% |
1/16 |
Thin upper lip vermilion |
6.3% |
1/16 |
Visual and hearing impairments |
|
|
Abnormal hearing |
16.0% |
4/25 |
Hearing impairment |
12.0% |
3/25 |
Mild hearing impairment |
4.0% |
1/25 |
Abnormal vision |
48.0% |
12/25 |
Strabismus |
16.0% |
4/25 |
Hypermetropia |
12.0% |
3/25 |
Abnormality of refraction |
8.0% |
2/25 |
Abnormality of vision |
4.0% |
1/25 |
Abnormality of the optic nerve |
4.0% |
1/25 |
Astigmatism |
4.0% |
1/25 |
Congenital strabismus |
4.0% |
1/25 |
Cortical visual impairment |
4.0% |
1/25 |
Myopia |
4.0% |
1/25 |
Nystagmus |
4.0% |
1/25 |
Poor eye contact |
4.0% |
1/25 |
Heart |
|
|
Abnormality of the heart |
5.3% |
1/19 |
Bicuspid aortic valve |
5.3% |
1/19 |
Pulmonary |
|
|
Abnormality of the lungs |
9.1% |
1/11 |
Asthma |
9.1% |
1/11 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
38.5% |
10/26 |
Constipation |
11.5% |
3/26 |
Feeding difficulties |
7.7% |
2/26 |
Gastroesophageal reflux |
7.7% |
2/26 |
Chronic diarrhea |
3.8% |
1/26 |
Drooling |
3.8% |
1/26 |
Feeding difficulties in infancy |
3.8% |
1/26 |
Gastrointestinal dysmotility |
3.8% |
1/26 |
Ileal atresia |
3.8% |
1/26 |
Intestinal malrotation |
3.8% |
1/26 |
Malnutrition |
3.8% |
1/26 |
Ulcerative colitis |
3.8% |
1/26 |
Urogenital |
|
|
Abnormality of the urogenital system |
13.6% |
3/22 |
Cryptorchidism |
4.5% |
1/22 |
Menorrhagia |
4.5% |
1/22 |
Nocturia |
4.5% |
1/22 |
Shawl scrotum |
4.5% |
1/22 |
Skeleton |
|
|
Skeletal abnormalities |
58.3% |
14/24 |
Pes planus |
12.5% |
3/24 |
Broad hallux |
8.3% |
2/24 |
Joint laxity |
8.3% |
2/24 |
Prominent fingertip pads |
8.3% |
2/24 |
Scoliosis |
8.3% |
2/24 |
Abnormality of the knees |
4.2% |
1/24 |
Bifid ribs |
4.2% |
1/24 |
Broad thumb |
4.2% |
1/24 |
Clinodactyly of the 5th finger |
4.2% |
1/24 |
Delayed skeletal maturation |
4.2% |
1/24 |
Finger joint hypermobility |
4.2% |
1/24 |
Foot asymmetry |
4.2% |
1/24 |
Generalized hypotonia |
4.2% |
1/24 |
Hallux valgus |
4.2% |
1/24 |
Hip dysplasia |
4.2% |
1/24 |
Limitation of joint mobility |
4.2% |
1/24 |
Long fingers |
4.2% |
1/24 |
Long palm |
4.2% |
1/24 |
Lower limb asymmetry |
4.2% |
1/24 |
Narrow palm |
4.2% |
1/24 |
Overlapping toe |
4.2% |
1/24 |
Positional foot deformity |
4.2% |
1/24 |
Tapered finger |
4.2% |
1/24 |
Toe syndactyly |
4.2% |
1/24 |
3-4 finger syndactyly |
4.2% |
1/24 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
19.0% |
4/21 |
Facial erythema |
4.8% |
1/21 |
Hypertrichosis |
4.8% |
1/21 |
Irregular hyperpigmentation |
4.8% |
1/21 |
Low anterior hairline |
4.8% |
1/21 |
Low posterior hairline |
4.8% |
1/21 |
Short nail |
4.8% |
1/21 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the metabolic system |
6.7% |
1/15 |
Hyperprolinemia |
6.7% |
1/15 |
Abnormality of the immune system |
17.6% |
3/17 |
Asthma |
5.9% |
1/17 |
Recurrent infections |
5.9% |
1/17 |
Recurrent otitis media |
5.9% |
1/17 |