CHD4
| 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 |
| Abnormality of pain sensation | 12.5% | 1/8 |
| Abnormal fear/anxiety-related behavior | 12.5% | 1/8 |
| Abnormal emotion/affect behavior | 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 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 aortic arch | 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 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 |
| 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 |