| Gender |
|
|
| Male |
64.9% |
24/37 |
| Female |
35.1% |
13/37 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/35 |
| Birth Weight abnormalities |
0% |
0/35 |
| Birth Head circumference abnormalities |
0% |
0/35 |
| Current Height abnormalities |
16.2% |
6/37 |
| < P3 : Short stature |
13.5% |
5/37 |
| > P98 : Tall stature |
2.7% |
1/37 |
| Current Weight abnormalities |
13.5% |
5/37 |
| > P98 : Increased body weight |
10.8% |
4/37 |
| < P3 : Decreased body weight |
2.7% |
1/37 |
| Current Head circumference abnormalities |
37.8% |
14/37 |
| > P98 : Macrocephaly |
29.7% |
11/37 |
| < P3 : Microcephaly |
8.1% |
3/37 |
| Neurology |
|
|
| Neurological abnormalities |
91.7% |
33/36 |
| Delayed speech and language development |
86.1% |
31/36 |
| Motor delay |
80.6% |
29/36 |
| Intellectual disability, mild |
30.6% |
11/36 |
| Infantile muscular hypotonia |
25.0% |
9/36 |
| Intellectual disability |
22.2% |
8/36 |
| Muscular hypotonia |
16.7% |
6/36 |
| Intellectual disability, moderate |
8.3% |
3/36 |
| Dyslexia |
2.8% |
1/36 |
| Generalized tonic-clonic seizures |
2.8% |
1/36 |
| Intermittent hyperventilation |
2.8% |
1/36 |
| Urinary incontinence |
2.8% |
1/36 |
| Behavioral problems |
37.5% |
3/8 |
| Attention deficit hyperactivity disorder |
25.0% |
2/8 |
| Autism |
25.0% |
2/8 |
| Abnormal emotion/affect behavior |
12.5% |
1/8 |
| Abnormal fear/anxiety-related behavior |
12.5% |
1/8 |
| Abnormality of pain sensation |
12.5% |
1/8 |
| Sensory impairment |
12.5% |
1/8 |
| Brain abnormality |
82.8% |
24/29 |
| Ventriculomegaly |
44.8% |
13/29 |
| Arnold-Chiari type I malformation |
20.7% |
6/29 |
| Hydrocephalus |
20.7% |
6/29 |
| Abnormality of the corpus callosum |
17.2% |
5/29 |
| Stroke |
10.3% |
3/29 |
| Syringomyelia |
10.3% |
3/29 |
| Moyamoya phenomenon |
6.9% |
2/29 |
| Abnormality of the cerebral white matter |
3.4% |
1/29 |
| Aplasia/Hypoplasia of the corpus callosum |
3.4% |
1/29 |
| Hemiparesis |
3.4% |
1/29 |
| Subependymal cysts |
3.4% |
1/29 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
20.0% |
1/5 |
| Abnormality of the tragus |
20.0% |
1/5 |
| Abnormality of the eye |
85.7% |
6/7 |
| Strabismus |
28.6% |
2/7 |
| Abnormality of the optic nerve |
14.3% |
1/7 |
| Astigmatism |
14.3% |
1/7 |
| Broad eyebrow |
14.3% |
1/7 |
| Hypertelorism |
14.3% |
1/7 |
| Iris coloboma |
14.3% |
1/7 |
| Prominent eyelashes |
14.3% |
1/7 |
| Short palpebral fissure |
14.3% |
1/7 |
| Sparse lateral eyebrow |
14.3% |
1/7 |
| Upslanted palpebral fissure |
14.3% |
1/7 |
| Abnormality of the nose |
33.3% |
1/3 |
| Short columella |
33.3% |
1/3 |
| Abnormality of the mouth |
66.7% |
4/6 |
| Abnormality of mouth size |
16.7% |
1/6 |
| Bifid uvula |
16.7% |
1/6 |
| Broad philtrum |
16.7% |
1/6 |
| Cleft palate |
16.7% |
1/6 |
| Diastema |
16.7% |
1/6 |
| Short philtrum |
16.7% |
1/6 |
| Tented upper lip vermilion |
16.7% |
1/6 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
60.0% |
15/25 |
| Bilateral sensorineural hearing impairment |
20.0% |
5/25 |
| Conductive hearing impairment |
12.0% |
3/25 |
| Sensorineural hearing impairment |
12.0% |
3/25 |
| Bilateral conductive hearing impairment |
4.0% |
1/25 |
| Childhood onset sensorineural hearing impairment |
4.0% |
1/25 |
| Hearing abnormality |
4.0% |
1/25 |
| Hearing impairment |
4.0% |
1/25 |
| Strabismus |
4.0% |
1/25 |
| Abnormal vision |
60.9% |
14/23 |
| Strabismus |
30.4% |
7/23 |
| Astigmatism |
21.7% |
5/23 |
| Hypermetropia |
13.0% |
3/23 |
| Abnormality of the optic nerve |
4.3% |
1/23 |
| Anisocoria |
4.3% |
1/23 |
| Cataract |
4.3% |
1/23 |
| Glaucoma |
4.3% |
1/23 |
| Myopia |
4.3% |
1/23 |
| Nasolacrimal duct obstruction |
4.3% |
1/23 |
| Optic atrophy |
4.3% |
1/23 |
| Retinal vascular tortuosity |
4.3% |
1/23 |
| Heart |
|
|
| Abnormality of the heart |
75.8% |
25/33 |
| Patent ductus arteriosus |
21.2% |
7/33 |
| Primum atrial septal defect |
21.2% |
7/33 |
| Abnormality of the atrial septum |
18.2% |
6/33 |
| Ventricular septal defect |
15.2% |
5/33 |
| Pulmonic stenosis |
9.1% |
3/33 |
| Tetralogy of Fallot |
9.1% |
3/33 |
| Abnormality of the pulmonary valve |
6.1% |
2/33 |
| Abnormality of the ventricular septum |
6.1% |
2/33 |
| Aortic root dilatation |
3.0% |
1/33 |
| Bicuspid aortic valve |
3.0% |
1/33 |
| Ebstein's anomaly of the tricuspid valve |
3.0% |
1/33 |
| Left superior vena cava draining to coronary sinus |
3.0% |
1/33 |
| Mitral valve prolapse |
3.0% |
1/33 |
| Mitral regurgitation |
3.0% |
1/33 |
| Multiple muscular ventricular septal defects |
3.0% |
1/33 |
| Muscular ventricular septal defect |
3.0% |
1/33 |
| Patent foramen ovale |
3.0% |
1/33 |
| Peripheral pulmonary artery stenosis |
3.0% |
1/33 |
| Pulmonary artery stenosis |
3.0% |
1/33 |
| Pulmonary valve defects |
3.0% |
1/33 |
| Right ventricular outlet obstruction |
3.0% |
1/33 |
| Right aortic arch with retroesophageal diverticulum of Kommerell |
3.0% |
1/33 |
| Right aortic arch |
3.0% |
1/33 |
| Right aortic arch with retroesophageal left subclavian artery |
3.0% |
1/33 |
| Tetralogy of Fallot with pulmonary atresia |
3.0% |
1/33 |
| Truncus arteriosus |
3.0% |
1/33 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
70.0% |
7/10 |
| Feeding difficulties |
30.0% |
3/10 |
| Gastroesophageal reflux |
20.0% |
2/10 |
| Anteriorly placed anus |
10.0% |
1/10 |
| Gastrostomy tube feeding in infancy |
10.0% |
1/10 |
| Intestinal malrotation |
10.0% |
1/10 |
| Omphalocele |
10.0% |
1/10 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
60.0% |
6/10 |
| Anteriorly placed anus |
20.0% |
2/10 |
| Bilateral cryptorchidism |
20.0% |
2/10 |
| Vesicoureteral reflux |
20.0% |
2/10 |
| Ambiguous genitalia |
10.0% |
1/10 |
| Hydronephrosis |
10.0% |
1/10 |
| Hydroureter |
10.0% |
1/10 |
| Recurrent urinary tract infections |
10.0% |
1/10 |
| Skeleton |
|
|
| Skeletal abnormalities |
90.9% |
20/22 |
| Advanced ossification of carpal bones |
13.6% |
3/22 |
| Joint laxity |
13.6% |
3/22 |
| Abnormality of the tarsal bones |
9.1% |
2/22 |
| Bilateral postaxial polydactyly |
9.1% |
2/22 |
| Fused cervical vertebrae |
9.1% |
2/22 |
| Genu varum |
9.1% |
2/22 |
| Genu valgum |
9.1% |
2/22 |
| Scoliosis |
9.1% |
2/22 |
| Abnormality of the cervical spine |
4.5% |
1/22 |
| Cervical vertebral dysplasia |
4.5% |
1/22 |
| Congenital bilateral hip dislocation |
4.5% |
1/22 |
| Coxa valga |
4.5% |
1/22 |
| Kyphoscoliosis |
4.5% |
1/22 |
| Long fingers |
4.5% |
1/22 |
| Lunate-triquetral fusion |
4.5% |
1/22 |
| Osteopenia |
4.5% |
1/22 |
| Pectus excavatum |
4.5% |
1/22 |
| Pes cavus |
4.5% |
1/22 |
| Postaxial polydactyly |
4.5% |
1/22 |
| Sagittal craniosynostosis |
4.5% |
1/22 |
| Short toe |
4.5% |
1/22 |
| Syndactyly |
4.5% |
1/22 |
| 3-4 finger cutaneous syndactyly |
4.5% |
1/22 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
86.7% |
13/15 |
| Cryptorchidism |
60.0% |
9/15 |
| Growth hormone deficiency |
26.7% |
4/15 |
| Hypergonadotropic hypogonadism |
26.7% |
4/15 |
| Hypogonadotrophic hypogonadism |
20.0% |
3/15 |
| Hyperthyroidism |
6.7% |
1/15 |
| Microphallus |
6.7% |
1/15 |
| Type I diabetes mellitus |
6.7% |
1/15 |
| Abnormality of the immune system |
33.3% |
2/6 |
| Abnormality of the thymus |
16.7% |
1/6 |
| Respiratory tract infection |
16.7% |
1/6 |