Gender |
|
|
Male |
64.9% |
24/37 |
Female |
35.1% |
13/37 |
Indifferent |
0% |
0/37 |
Unknown |
0% |
0/37 |
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 fear/anxiety-related behavior |
12.5% |
1/8 |
Abnormal emotion/affect 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 ventricular septum |
6.1% |
2/33 |
Abnormality of the pulmonary valve |
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 regurgitation |
3.0% |
1/33 |
Mitral valve prolapse |
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 valve defects |
3.0% |
1/33 |
Pulmonary artery stenosis |
3.0% |
1/33 |
Right aortic arch with retroesophageal diverticulum of Kommerell |
3.0% |
1/33 |
Right aortic arch with retroesophageal left subclavian artery |
3.0% |
1/33 |
Right aortic arch |
3.0% |
1/33 |
Right ventricular outlet obstruction |
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 |
Hydroureter |
10.0% |
1/10 |
Hydronephrosis |
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 valgum |
9.1% |
2/22 |
Genu varum |
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 |