CHD4

Graph and Chart

Patient Overview : 37

General

Frequency of all clinical findings

Percentage Cases
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