CHD8

Graph and Chart

Patient Overview : 82

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 75.6% 62/82
Female 24.4% 20/82
Neurology    
Neurological abnormalities 51.6% 32/62
Headache 1.6% 1/62
Seizures 11.3% 7/62
Generalized hypotonia 22.6% 14/62
Postural instability 1.6% 1/62
Vertigo 1.6% 1/62
Febrile seizures 3.2% 2/62
Impaired pain sensation 1.6% 1/62
Cerebral palsy 1.6% 1/62
EEG with centrotemporal focal spike waves 1.6% 1/62
Poor motor coordination 1.6% 1/62
Clumsiness 4.8% 3/62
Normal interictal EEG 1.6% 1/62
Muscular hypotonia 4.8% 3/62
Poor coordination 1.6% 1/62
Hernia 3.2% 2/62
Generalized tonic-clonic seizures 1.6% 1/62
Absence seizures 1.6% 1/62
Abnormality of coordination 8.1% 5/62
Sleep disturbance 3.2% 2/62
Motor delay 3.2% 2/62
Difficulty walking 3.2% 2/62
Increased muscle fatiguability 3.2% 2/62
Weak voice 3.2% 2/62
Decreased facial expression 3.2% 2/62
Hypomimic face 3.2% 2/62
Sleep-wake cycle disturbance 1.6% 1/62
Poor hand-eye coordination 1.6% 1/62
Focal seizures 1.6% 1/62
Myopathic facies 1.6% 1/62
Behavioral problems 86.3% 69/80
Autism 61.3% 49/80
Poor eye contact 17.5% 14/80
Lack of peer relationships 3.8% 3/80
Impaired social reciprocity 3.8% 3/80
Impaired use of nonverbal behaviors 1.3% 1/80
Impaired social interactions 20.0% 16/80
Abnormal emotion/affect behavior 6.3% 5/80
Stereotypic behavior 11.3% 9/80
Insomnia 20.0% 16/80
Short attention span 33.8% 27/80
Abnormal social behavior 10.0% 8/80
Autistic behavior 8.8% 7/80
Global developmental delay 3.8% 3/80
Memory impairment 1.3% 1/80
Behavioral abnormality 7.5% 6/80
Inappropriate crying 3.8% 3/80
Abnormal aggressive, impulsive or violent behavior 3.8% 3/80
Delusions 2.5% 2/80
Sleep disturbance 11.3% 9/80
Inflexible adherence to routines or rituals 1.3% 1/80
Anxiety 7.5% 6/80
Echolalia 2.5% 2/80
Motor tics 1.3% 1/80
Attention deficit hyperactivity disorder 5.0% 4/80
Aggressive behavior 6.3% 5/80
Depression 5.0% 4/80
Excessive daytime sleepiness 1.3% 1/80
Repetitive compulsive behavior 16.3% 13/80
Hyperactivity 5.0% 4/80
Self-injurious behavior 6.3% 5/80
Abnormal fear/anxiety-related behavior 5.0% 4/80
Irritability 6.3% 5/80
Hearing abnormality 1.3% 1/80
Schizophrenia 1.3% 1/80
Auditory hallucinations 1.3% 1/80
Anorexia 1.3% 1/80
Lack of spontaneous play 1.3% 1/80
Psychosis 1.3% 1/80
Obsessive-compulsive behavior 1.3% 1/80
Brain abnormality 21.3% 13/61
Ventriculomegaly 6.6% 4/61
Cerebellar cyst 1.6% 1/61
Delayed CNS myelination 1.6% 1/61
EEG abnormality 6.6% 4/61
Morphological abnormality of the central nervous system 1.6% 1/61
Abnormality of the calvaria 1.6% 1/61
Abnormality of the cerebral white matter 4.9% 3/61
Abnormal brain FDG positron emission tomography 1.6% 1/61
Facial abnormalities    
Abnormality of the ear 29.1% 16/55
Recurrent otitis media 1.8% 1/55
Macrotia 14.5% 8/55
Posteriorly rotated ears 3.6% 2/55
Low-set ears 1.8% 1/55
Cupped ear 1.8% 1/55
Large fleshy ears 1.8% 1/55
Large earlobe 10.9% 6/55
Uplifted earlobe 1.8% 1/55
Otitis media 1.8% 1/55
Abnormality of the ear 3.6% 2/55
Abnormality of the eye 52.6% 30/57
Hypertelorism 26.3% 15/57
Downslanted palpebral fissures 21.1% 12/57
Prominent supraorbital ridges 21.1% 12/57
Upslanted palpebral fissure 1.8% 1/57
Long palpebral fissure 1.8% 1/57
Underdeveloped supraorbital ridges 1.8% 1/57
Proptosis 1.8% 1/57
Ptosis 3.5% 2/57
Strabismus 5.3% 3/57
Long eyelashes 1.8% 1/57
Exotropia 1.8% 1/57
Medial flaring of the eyebrow 1.8% 1/57
Periorbital fullness 3.5% 2/57
Deeply set eye 1.8% 1/57
Epicanthus 1.8% 1/57
Iris atrophy 1.8% 1/57
Congenital ptosis 3.5% 2/57
Esotropia 1.8% 1/57
Cataract 1.8% 1/57
Abnormality of the nose 24.1% 13/54
Wide nose 11.1% 6/54
Pear-shaped nose 1.9% 1/54
Wide nasal bridge 5.6% 3/54
Broad nasal tip 1.9% 1/54
Thick nasal alae 1.9% 1/54
Abnormality of the nose 1.9% 1/54
Long philtrum 1.9% 1/54
Prominent nasal tip 3.7% 2/54
Abnormality of the mouth 14.0% 7/50
High palate 8.0% 4/50
Abnormality of the gingiva 2.0% 1/50
Abnormality of the teeth 2.0% 1/50
Thick vermilion border 2.0% 1/50
Smooth philtrum 2.0% 1/50
Downturned corners of mouth 2.0% 1/50
Long philtrum 2.0% 1/50
Bifid uvula 2.0% 1/50
Thin upper lip vermilion 2.0% 1/50
Abnormality of dental color 2.0% 1/50
Visual and hearing impairments    
Abnormal hearing 9.8% 5/51
Hearing impairment 2.0% 1/51
Mild hearing impairment 2.0% 1/51
Behavioral abnormality 2.0% 1/51
Abnormality of the ear 2.0% 1/51
Hypermetropia 2.0% 1/51
Abnormal vision 8.0% 4/50
Myopia 6.0% 3/50
Abnormality of vision 2.0% 1/50
Heart    
Abnormality of the heart 8.7% 4/46
Heart murmur 2.2% 1/46
Mitral regurgitation 2.2% 1/46
Patent foramen ovale 4.3% 2/46
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 30/60
Constipation 28.3% 17/60
Bowel incontinence 1.7% 1/60
Diarrhea 11.7% 7/60
Chronic constipation 3.3% 2/60
Chronic diarrhea 3.3% 2/60
Feeding difficulties 1.7% 1/60
Abnormality of the gastrointestinal tract 6.7% 4/60
Abdominal distention 1.7% 1/60
Abdominal pain 3.3% 2/60
Intermittent diarrhea 1.7% 1/60
Inflammation of the large intestine 1.7% 1/60
Gastroesophageal reflux 6.7% 4/60
Vomiting 1.7% 1/60
Abnormality of the duodenum 1.7% 1/60
Esophagitis 1.7% 1/60
Functional abnormality of the gastrointestinal tract 1.7% 1/60
Anal fissure 1.7% 1/60
Pyloric stenosis 1.7% 1/60
Urogenital    
Abnormality of the urogenital system 14.3% 7/49
Abnormality of the kidney 2.0% 1/49
Uterine leiomyoma 2.0% 1/49
Macroorchidism 4.1% 2/49
Hydrocele testis 4.1% 2/49
Cryptorchidism 2.0% 1/49
Skeleton    
Skeletal abnormalities 49.1% 27/55
Ankle swelling 1.8% 1/55
Hand muscle weakness 1.8% 1/55
Pes planus 16.4% 9/55
Increased laxity of ankles 1.8% 1/55
Thoracic kyphosis 3.6% 2/55
Abnormality of limbs 1.8% 1/55
Sandal gap 1.8% 1/55
Posterior plagiocephaly 1.8% 1/55
Scapular winging 1.8% 1/55
Joint laxity 1.8% 1/55
Large hands 1.8% 1/55
Stiff interphalangeal joints 1.8% 1/55
Long foot 1.8% 1/55
Broad phalanges of the hand 1.8% 1/55
Abnormality of the calvaria 1.8% 1/55
Lumbar hyperlordosis 1.8% 1/55
Short palm 1.8% 1/55
Short finger 1.8% 1/55
Short 4th metacarpal 1.8% 1/55
Short foot 1.8% 1/55
2-3 toe cutaneous syndactyly 1.8% 1/55
Short third metatarsal 1.8% 1/55
Short fourth metatarsal 1.8% 1/55
Hernia 1.8% 1/55
Abnormal jaw morphology 3.6% 2/55
Abnormality of the teeth 5.5% 3/55
Thoracolumbar scoliosis 5.5% 3/55
Marked delay in bone age 1.8% 1/55
Dysharmonic accelerated bone age 1.8% 1/55
Premature loss of primary teeth 3.6% 2/55
Joint hypermobility 1.8% 1/55
Tall stature 1.8% 1/55
Abnormality of the knees 3.6% 2/55
Toe walking 1.8% 1/55
Widely spaced teeth 1.8% 1/55
Kyphosis 1.8% 1/55
Flexion contracture of finger 1.8% 1/55
Clinodactyly of the 5th finger 3.6% 2/55
Abnormality of the sternum 1.8% 1/55
Accelerated skeletal maturation 1.8% 1/55
Scoliosis 3.6% 2/55
Generalized joint laxity 1.8% 1/55
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 10.9% 5/46
Urticaria 2.2% 1/46
Striae distensae 4.3% 2/46
Few cafe-au-lait spots 2.2% 1/46
Epidermal nevus 2.2% 1/46
Fibroma 2.2% 1/46
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 6.7% 3/45
Precocious puberty 2.2% 1/45
Graves disease 2.2% 1/45
Hypothyroidism 2.2% 1/45
Abnormality of the metabolic system 10.9% 5/46
Type I diabetes mellitus 2.2% 1/46
Neonatal hyperbilirubinemia 8.7% 4/46
Abnormality of the immune system 8.9% 4/45
Precocious puberty 2.2% 1/45
Recurrent otitis media 2.2% 1/45
Recurrent infections 2.2% 1/45
Abnormality of the auditory canal 2.2% 1/45
Gluten intolerance 4.4% 2/45
Food intolerance 4.4% 2/45
Neoplasia    
Neoplasia 8.5% 4/47
Fibrosarcoma 2.1% 1/47
Glabellar hemangioma 6.4% 3/47