| Gender |
|
|
| Male |
63.6% |
14/22 |
| Female |
36.4% |
8/22 |
| Indifferent |
0% |
0/22 |
| Unknown |
0% |
0/22 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/2 |
| Birth Weight abnormalities |
33.3% |
1/3 |
| < P3 : Small for gestational age |
33.3% |
1/3 |
| Birth Head circumference abnormalities |
0% |
0/2 |
| Current Height abnormalities |
40.0% |
2/5 |
| < P3 : Short stature |
40.0% |
2/5 |
| Current Weight abnormalities |
0% |
0/3 |
| Current Head circumference abnormalities |
28.6% |
4/14 |
| < P3 : Microcephaly |
28.6% |
4/14 |
| Neurology |
|
|
| Neurological abnormalities |
81.8% |
18/22 |
| Seizures |
54.5% |
12/22 |
| Generalized hypotonia |
36.4% |
8/22 |
| Central hypotonia |
4.5% |
1/22 |
| Dystonia |
4.5% |
1/22 |
| Hypertonia |
4.5% |
1/22 |
| Intellectual disability, severe |
4.5% |
1/22 |
| Language impairment |
4.5% |
1/22 |
| Neurodevelopmental delay |
4.5% |
1/22 |
| Progressive gait ataxia |
4.5% |
1/22 |
| Unsteady gait |
4.5% |
1/22 |
| Behavioral problems |
81.0% |
17/21 |
| Oral aversion |
52.4% |
11/21 |
| Aggressive behavior |
47.6% |
10/21 |
| Autistic behavior |
28.6% |
6/21 |
| Sleep disturbance |
19.0% |
4/21 |
| Anxiety |
4.8% |
1/21 |
| Autism |
4.8% |
1/21 |
| Personality disorder |
4.8% |
1/21 |
| Polyphagia |
4.8% |
1/21 |
| Brain abnormality |
76.5% |
13/17 |
| Cerebellar vermis hypoplasia |
23.5% |
4/17 |
| Communicating hydrocephalus |
11.8% |
2/17 |
| Delayed myelination |
11.8% |
2/17 |
| Abnormality of the cerebral white matter |
5.9% |
1/17 |
| Abnormality of the periventricular white matter |
5.9% |
1/17 |
| Cerebellar atrophy |
5.9% |
1/17 |
| Cerebral white matter hypoplasia |
5.9% |
1/17 |
| Cerebellar hemisphere hypoplasia |
5.9% |
1/17 |
| Colpocephaly |
5.9% |
1/17 |
| Cortical dysplasia |
5.9% |
1/17 |
| Diffuse cerebral atrophy |
5.9% |
1/17 |
| Enlarged cisterna magna |
5.9% |
1/17 |
| Hypoplasia of the corpus callosum |
5.9% |
1/17 |
| Hypoplasia of the frontal lobes |
5.9% |
1/17 |
| Ventriculomegaly |
5.9% |
1/17 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
50.0% |
2/4 |
| Abnormality of the face |
25.0% |
1/4 |
| Low-set ears |
25.0% |
1/4 |
| Abnormality of the eye |
100.0% |
5/5 |
| Hypertelorism |
40.0% |
2/5 |
| Long eyelashes |
40.0% |
2/5 |
| Abnormality of the face |
20.0% |
1/5 |
| Anisocoria |
20.0% |
1/5 |
| Broad eyebrow |
20.0% |
1/5 |
| Epicanthus |
20.0% |
1/5 |
| Highly arched eyebrow |
20.0% |
1/5 |
| Long palpebral fissure |
20.0% |
1/5 |
| Thick eyebrow |
20.0% |
1/5 |
| Abnormality of the nose |
50.0% |
2/4 |
| Abnormality of the face |
25.0% |
1/4 |
| Bulbous nose |
25.0% |
1/4 |
| Abnormality of the mouth |
60.0% |
3/5 |
| Abnormality of upper lip vermillion |
20.0% |
1/5 |
| Bifid uvula |
20.0% |
1/5 |
| Dental crowding |
20.0% |
1/5 |
| High palate |
20.0% |
1/5 |
| Persistence of primary teeth |
20.0% |
1/5 |
| Short lingual frenulum |
20.0% |
1/5 |
| Submucous cleft hard palate |
20.0% |
1/5 |
| Thin upper lip vermilion |
20.0% |
1/5 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
10.0% |
2/20 |
| Bilateral sensorineural hearing impairment |
5.0% |
1/20 |
| Hearing impairment |
5.0% |
1/20 |
| Abnormal vision |
57.1% |
12/21 |
| Myopia |
23.8% |
5/21 |
| Strabismus |
14.3% |
3/21 |
| Astigmatism |
9.5% |
2/21 |
| Coloboma |
9.5% |
2/21 |
| Nystagmus |
9.5% |
2/21 |
| Abnormality of the optic disc |
4.8% |
1/21 |
| Congenital nystagmus |
4.8% |
1/21 |
| Hypermetropia |
4.8% |
1/21 |
| Optic nerve coloboma |
4.8% |
1/21 |
| Unilateral ptosis |
4.8% |
1/21 |
| Heart |
|
|
| Abnormality of the heart |
52.4% |
11/21 |
| Patent ductus arteriosus |
23.8% |
5/21 |
| Atria septal defect |
19.0% |
4/21 |
| Ventricular septal defect |
19.0% |
4/21 |
| Patent foramen ovale |
9.5% |
2/21 |
| Abnormality of the tricuspid valve |
4.8% |
1/21 |
| Aortic regurgitation |
4.8% |
1/21 |
| Bicuspid aortic valve |
4.8% |
1/21 |
| Dysplastic aortic valve |
4.8% |
1/21 |
| Dysplastic pulmonary valve |
4.8% |
1/21 |
| Persistent left superior vena cava |
4.8% |
1/21 |
| Prolonged QT interval |
4.8% |
1/21 |
| Pulmonary insufficiency |
4.8% |
1/21 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
68.2% |
15/22 |
| Constipation |
40.9% |
9/22 |
| Gastroesophageal reflux |
27.3% |
6/22 |
| Gastrostomy tube feeding in infancy |
22.7% |
5/22 |
| Inguinal hernia |
13.6% |
3/22 |
| Umbilical hernia |
13.6% |
3/22 |
| Anal fistula |
4.5% |
1/22 |
| Anorectal anomaly |
4.5% |
1/22 |
| Ectopic anus |
4.5% |
1/22 |
| Gastroparesis |
4.5% |
1/22 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
45.5% |
10/22 |
| Cryptorchidism |
27.3% |
6/22 |
| Renal duplication |
9.1% |
2/22 |
| Renal cyst |
4.5% |
1/22 |
| Testicular microlithiasis |
4.5% |
1/22 |
| Urethral diverticulum |
4.5% |
1/22 |
| Urinary incontinence |
4.5% |
1/22 |
| Skeleton |
|
|
| Skeletal abnormalities |
54.5% |
12/22 |
| Clinodactyly of the 5th finger |
22.7% |
5/22 |
| Pes planus |
18.2% |
4/22 |
| Pectus excavatum |
13.6% |
3/22 |
| Plagiocephaly |
9.1% |
2/22 |
| Scoliosis |
9.1% |
2/22 |
| Brachycephaly |
4.5% |
1/22 |
| Cervical ribs |
4.5% |
1/22 |
| Cranial asymmetry |
4.5% |
1/22 |
| Delayed skeletal maturation |
4.5% |
1/22 |
| Sagittal craniosynostosis |
4.5% |
1/22 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
38.1% |
8/21 |
| Single transverse palmar crease |
14.3% |
3/21 |
| Abnormal dermatoglyphics |
4.8% |
1/21 |
| Clubbing |
4.8% |
1/21 |
| Curly hair |
4.8% |
1/21 |
| Melanocytic nevus |
4.8% |
1/21 |
| Urticaria |
4.8% |
1/21 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
26.3% |
5/19 |
| IgA deficiency |
5.3% |
1/19 |
| Leukopenia |
5.3% |
1/19 |
| Neutropenia |
5.3% |
1/19 |
| Recurrent infections |
5.3% |
1/19 |
| Recurrent upper respiratory tract infections |
5.3% |
1/19 |