Patient Overview : 98

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 53.1% 52/98
Female 46.9% 46/98
General    
Birth Length abnormalities 4.1% 4/97
< P3 : Birth length less than 3rd percentile 4.1% 4/97
Birth Weight abnormalities 10.3% 10/97
> P98 : Large for gestational age 3.1% 3/97
< P3 : Small for gestational age 7.2% 7/97
Birth Head circumference abnormalities 4.1% 4/97
< P3 : Congenital microcephaly 3.1% 3/97
> P98 : Macrocephaly at birth 1.0% 1/97
Current Height abnormalities 21.9% 21/96
< P3 : Short stature 20.8% 20/96
> P98 : Tall stature 1.0% 1/96
Current Weight abnormalities 13.5% 13/96
> P98 : Increased body weight 8.3% 8/96
< P3 : Decreased body weight 5.2% 5/96
Current Head circumference abnormalities 12.6% 12/95
< P3 : Microcephaly 12.6% 12/95
Neurology    
Neurological abnormalities 88.0% 66/75
Generalized hypotonia 62.7% 47/75
Pain insensitivity 17.3% 13/75
Seizures 13.3% 10/75
Nystagmus 6.7% 5/75
Muscular hypotonia 4.0% 3/75
Abnormality of the optic nerve 2.7% 2/75
EEG with focal epileptiform discharges 2.7% 2/75
Global developmental delay 2.7% 2/75
Spasticity 2.7% 2/75
Abnormality of the extraocular muscles 1.3% 1/75
Central hypotonia 1.3% 1/75
Delayed speech and language development 1.3% 1/75
Drooling 1.3% 1/75
EEG abnormality 1.3% 1/75
EEG with burst suppression 1.3% 1/75
Facial palsy 1.3% 1/75
Generalized seizures 1.3% 1/75
Hallucinations 1.3% 1/75
Hypertonia 1.3% 1/75
Multifocal epileptiform discharges 1.3% 1/75
Paroxysmal bursts of laughter 1.3% 1/75
Poor eye contact 1.3% 1/75
Stereotypical hand wringing 1.3% 1/75
Stereotypic behavior 1.3% 1/75
Upbeat nystagmus 1.3% 1/75
Vertical nystagmus 1.3% 1/75
Behavioral problems 91.7% 77/84
Autism 59.5% 50/84
Global developmental delay 17.9% 15/84
Attention deficit hyperactivity disorder 14.3% 12/84
Behavioral abnormality 11.9% 10/84
Stereotypic behavior 11.9% 10/84
Aggressive behavior 9.5% 8/84
Recurrent hand flapping 8.3% 7/84
Abnormal emotion/affect behavior 7.1% 6/84
Anxiety 7.1% 6/84
Autistic behavior 7.1% 6/84
Obsessive-compulsive behavior 7.1% 6/84
Short attention span 6.0% 5/84
Stereotypical body rocking 6.0% 5/84
Hyperactivity 3.6% 3/84
Self-injurious behavior 3.6% 3/84
Stereotypical hand wringing 3.6% 3/84
Mood changes 2.4% 2/84
Obsessive-compulsive trait 2.4% 2/84
Self-mutilation 2.4% 2/84
Abnormal social behavior 1.2% 1/84
Abnormal aggressive, impulsive or violent behavior 1.2% 1/84
Apraxia 1.2% 1/84
Depression 1.2% 1/84
Echolalia 1.2% 1/84
Hair-pulling 1.2% 1/84
Impaired social interactions 1.2% 1/84
Impaired ability to form peer relationships 1.2% 1/84
Inflexible adherence to routines or rituals 1.2% 1/84
Low frustration tolerance 1.2% 1/84
Mood swings 1.2% 1/84
Pain insensitivity 1.2% 1/84
Poor eye contact 1.2% 1/84
Sleep disturbance 1.2% 1/84
Violent behavior 1.2% 1/84
Brain abnormality 61.8% 47/76
Abnormality of the cerebral ventricles 10.5% 8/76
Dilation of lateral ventricles 10.5% 8/76
Hypoplasia of the corpus callosum 9.2% 7/76
Abnormality of the corpus callosum 6.6% 5/76
Cerebral atrophy 6.6% 5/76
Choroid plexus cyst 5.3% 4/76
Abnormality of the cerebral white matter 3.9% 3/76
Abnormality of the periventricular white matter 3.9% 3/76
Cortical dysplasia 3.9% 3/76
Delayed myelination 3.9% 3/76
Abnormality of the cerebral cortex 2.6% 2/76
Abnormality of lateral ventricle 2.6% 2/76
Abnormality of the pituitary gland 2.6% 2/76
Abnormality of the cerebrospinal fluid 2.6% 2/76
Arachnoid cyst 2.6% 2/76
Cortical gyral simplification 2.6% 2/76
Dilated third ventricle 2.6% 2/76
Enlarged cisterna magna 2.6% 2/76
Focal white matter lesions 2.6% 2/76
Ventriculomegaly 2.6% 2/76
Abnormality of the subarachnoid space 1.3% 1/76
Abnormality of the cerebrum 1.3% 1/76
Abnormality of the spinal cord 1.3% 1/76
Abnormal cortical gyration 1.3% 1/76
Abnormality of the calvaria 1.3% 1/76
Aplasia/Hypoplasia of the optic nerve 1.3% 1/76
Aplasia/Hypoplasia of the cerebral white matter 1.3% 1/76
Autism 1.3% 1/76
Brain atrophy 1.3% 1/76
Cerebral hypoplasia 1.3% 1/76
Cerebral ischemia 1.3% 1/76
Delayed CNS myelination 1.3% 1/76
Encephalopathy 1.3% 1/76
Hydrocephalus 1.3% 1/76
Hypoplasia of the frontal lobes 1.3% 1/76
Hypoplasia of olfactory tract 1.3% 1/76
Limbic malformations 1.3% 1/76
Multifocal cerebral white matter abnormalities 1.3% 1/76
Periventricular leukomalacia 1.3% 1/76
Perivascular spaces 1.3% 1/76
Pineal cyst 1.3% 1/76
Polymicrogyria 1.3% 1/76
Punctate periventricular T2 hyperintense foci 1.3% 1/76
Small pituitary gland 1.3% 1/76
Subdural hemorrhage 1.3% 1/76
Widened subarachnoid space 1.3% 1/76
Facial abnormalities    
Abnormality of the ear 53.7% 36/67
External ear malformation 16.4% 11/67
Low-set ears 11.9% 8/67
Small earlobe 9.0% 6/67
Uplifted earlobe 6.0% 4/67
Abnormality of the outer ear 4.5% 3/67
Overfolding of the superior helices 3.0% 2/67
Overfolded helix 3.0% 2/67
Posteriorly rotated ears 3.0% 2/67
Thickened helices 3.0% 2/67
Abnormality of earlobe 1.5% 1/67
Auricular tag 1.5% 1/67
Lop ear 1.5% 1/67
Low-set, posteriorly rotated ears 1.5% 1/67
Microtia 1.5% 1/67
Narrow internal auditory canal 1.5% 1/67
Preauricular pit 1.5% 1/67
Squared superior portion of helix 1.5% 1/67
Abnormality of the eye 89.5% 77/86
Downslanted palpebral fissures 37.2% 32/86
Hypertelorism 20.9% 18/86
Strabismus 16.3% 14/86
Eversion of lateral third of lower eyelids 11.6% 10/86
Ptosis 10.5% 9/86
Thick eyebrow 10.5% 9/86
Short palpebral fissure 9.3% 8/86
Upslanted palpebral fissure 7.0% 6/86
Bilateral ptosis 4.7% 4/86
Prominent eyelashes 4.7% 4/86
Small palpebral fissure 4.7% 4/86
Abnormality of the periorbital region 3.5% 3/86
Abnormality of the eyelid 2.3% 2/86
Lacrimal duct stenosis 2.3% 2/86
Medial flaring of the eyebrow 2.3% 2/86
Sparse eyebrow 2.3% 2/86
Abnormality of the lacrimal duct 1.2% 1/86
Astigmatism 1.2% 1/86
Blepharophimosis 1.2% 1/86
Coloboma 1.2% 1/86
Ectropion of lower eyelids 1.2% 1/86
Epicanthus 1.2% 1/86
High-grade hypermetropia 1.2% 1/86
Hypotelorism 1.2% 1/86
Iris coloboma 1.2% 1/86
Long eyelashes 1.2% 1/86
Long palpebral fissure 1.2% 1/86
Telecanthus 1.2% 1/86
Abnormality of the nose 89.8% 79/88
Wide nasal bridge 43.2% 38/88
Short nose 33.0% 29/88
Broad nasal tip 28.4% 25/88
Anteverted nares 25.0% 22/88
Depressed nasal bridge 15.9% 14/88
Wide nasal base 13.6% 12/88
Abnormality of the nasal bridge 6.8% 6/88
Abnormality of the nasal tip 5.7% 5/88
Narrow nasal bridge 4.5% 4/88
Thick nasal alae 4.5% 4/88
Low hanging columella 3.4% 3/88
Anteverted ears 1.1% 1/88
Choanal atresia 1.1% 1/88
Depressed nasal tip 1.1% 1/88
Long philtrum 1.1% 1/88
Narrow nasal tip 1.1% 1/88
Smooth philtrum 1.1% 1/88
Underdeveloped nasal alae 1.1% 1/88
Abnormality of the mouth 90.5% 76/84
Thin upper lip vermilion 57.1% 48/84
Long philtrum 39.3% 33/84
Everted lower lip vermilion 25.0% 21/84
Thick lower lip vermilion 21.4% 18/84
Widely spaced teeth 17.9% 15/84
Short philtrum 10.7% 9/84
Abnormality of upper lip vermillion 8.3% 7/84
Broad philtrum 8.3% 7/84
Macrodontia 7.1% 6/84
Wide mouth 7.1% 6/84
Abnormality of mouth size 6.0% 5/84
Abnormality of lower lip 6.0% 5/84
Diastema 6.0% 5/84
Smooth philtrum 6.0% 5/84
Abnormality of dental enamel 3.6% 3/84
Abnormality of the teeth 2.4% 2/84
Deep philtrum 2.4% 2/84
High palate 2.4% 2/84
Narrow palate 2.4% 2/84
Abnormality of the philtrum 1.2% 1/84
Ankyloglossia 1.2% 1/84
Asymmetric crying face 1.2% 1/84
Carious teeth 1.2% 1/84
Cleft palate 1.2% 1/84
Dental malocclusion 1.2% 1/84
Downturned corners of mouth 1.2% 1/84
Mandibular prognathia 1.2% 1/84
Narrow mouth 1.2% 1/84
Thick upper lip vermilion 1.2% 1/84
Thin lower lip vermilion 1.2% 1/84
Widely spaced primary teeth 1.2% 1/84
Yellow-brown discoloration of the teeth 1.2% 1/84
Visual and hearing impairments    
Abnormal hearing 15.1% 11/73
Hearing impairment 8.2% 6/73
Bilateral sensorineural hearing impairment 1.4% 1/73
Cholesteatoma 1.4% 1/73
Chronic otitis media 1.4% 1/73
Congenital sensorineural hearing impairment 1.4% 1/73
Recurrent otitis media 1.4% 1/73
Recurrent infections of the middle ear 1.4% 1/73
Sensorineural hearing impairment 1.4% 1/73
Abnormal vision 74.1% 60/81
Hypermetropia 33.3% 27/81
Strabismus 24.7% 20/81
Astigmatism 9.9% 8/81
Cortical visual impairment 9.9% 8/81
Congenital visual impairment 7.4% 6/81
Esotropia 3.7% 3/81
Myopia 3.7% 3/81
Ptosis 3.7% 3/81
Exotropia 2.5% 2/81
Hypertelorism 2.5% 2/81
Optic nerve coloboma 2.5% 2/81
Unilateral strabismus 2.5% 2/81
Abnormality of the optic disc 1.2% 1/81
Abnormal eye morphology 1.2% 1/81
Amblyopia 1.2% 1/81
Anisometropia 1.2% 1/81
Cataract 1.2% 1/81
Congenital cataract 1.2% 1/81
Corneal opacity 1.2% 1/81
High-grade hypermetropia 1.2% 1/81
Hyperopic astigmatism 1.2% 1/81
Impaired convergence 1.2% 1/81
Iris coloboma 1.2% 1/81
Nystagmus 1.2% 1/81
Retinal detachment 1.2% 1/81
Severe Myopia 1.2% 1/81
Visual impairment 1.2% 1/81
Heart    
Abnormality of the heart 42.2% 35/83
Atria septal defect 8.4% 7/83
Patent foramen ovale 7.2% 6/83
Patent ductus arteriosus 6.0% 5/83
Abnormality of the atrial septum 3.6% 3/83
Mitral valve prolapse 3.6% 3/83
Ventricular septal defect 3.6% 3/83
Abnormality of the ventricular septum 2.4% 2/83
Mitral regurgitation 2.4% 2/83
Abnormality of the aortic valve 1.2% 1/83
Abnormality of cardiac ventricle 1.2% 1/83
Abnormality of the left ventricle 1.2% 1/83
Abnormality of the aorta 1.2% 1/83
Abnormality of the pulmonary valve 1.2% 1/83
Aortic valve stenosis 1.2% 1/83
Atrial septal aneurysm 1.2% 1/83
Ductus arteriosus aneurysm 1.2% 1/83
Dysplastic aortic valve 1.2% 1/83
Noncompaction cardiomyopathy 1.2% 1/83
Persistent patent ductus venosus 1.2% 1/83
Primum atrial septal defect 1.2% 1/83
Pulmonic stenosis 1.2% 1/83
Right aortic arch 1.2% 1/83
Secundum atrial septal defect 1.2% 1/83
Tapered finger 1.2% 1/83
Tetralogy of Fallot 1.2% 1/83
Tricuspid regurgitation 1.2% 1/83
Vascular ring 1.2% 1/83
Pulmonary    
Abnormality of the lungs 27.3% 3/11
Aspirin-induced asthma 9.1% 1/11
Functional respiratory abnormality 9.1% 1/11
Recurrent bronchiolitis 9.1% 1/11
Recurrent respiratory infections 9.1% 1/11
Gastrointestinal    
Gastrointestinal abnormalities 74.4% 61/82
Gastroesophageal reflux 45.1% 37/82
Constipation 37.8% 31/82
Feeding difficulties 32.9% 27/82
Vomiting 18.3% 15/82
Obesity 13.4% 11/82
Dysphagia 7.3% 6/82
Gastrostomy tube feeding in infancy 6.1% 5/82
Aspiration 4.9% 4/82
Feeding difficulties in infancy 3.7% 3/82
Polyphagia 3.7% 3/82
Poor suck 3.7% 3/82
Anal atresia 2.4% 2/82
Diarrhea 2.4% 2/82
Oral-pharyngeal dysphagia 2.4% 2/82
Abnormality of the tongue muscle 1.2% 1/82
Abnormality of the stomach 1.2% 1/82
Abnormality of the duodenum 1.2% 1/82
Aganglionic megacolon 1.2% 1/82
Chronic constipation 1.2% 1/82
Encopresis 1.2% 1/82
Inguinal hernia 1.2% 1/82
Intermittent diarrhea 1.2% 1/82
Intestinal malrotation 1.2% 1/82
Lactose intolerance 1.2% 1/82
Oral motor hypotonia 1.2% 1/82
Slow progression 1.2% 1/82
Umbilical hernia 1.2% 1/82
Urogenital    
Abnormality of the urogenital system 32.8% 21/64
Cryptorchidism 7.8% 5/64
Bilateral cryptorchidism 4.7% 3/64
Unilateral cryptorchidism 4.7% 3/64
Vesicoureteral reflux 4.7% 3/64
Hernia 3.1% 2/64
Abnormality of the breast 1.6% 1/64
Abnormality of the penis 1.6% 1/64
Abnormality of the ureter 1.6% 1/64
Abnormal renal physiology 1.6% 1/64
Autonomic bladder dysfunction 1.6% 1/64
Micropenis 1.6% 1/64
Urinary incontinence 1.6% 1/64
Skeleton    
Skeletal abnormalities 71.1% 59/83
Sandal gap 19.3% 16/83
Broad finger 13.3% 11/83
Scoliosis 13.3% 11/83
Short toe 10.8% 9/83
Joint hypermobility 8.4% 7/83
Pectus excavatum 8.4% 7/83
Pes planus 8.4% 7/83
Long hallux 7.2% 6/83
Clinodactyly of the 5th finger 4.8% 4/83
Finger joint hypermobility 4.8% 4/83
Hallux valgus 4.8% 4/83
Increased laxity of fingers 4.8% 4/83
Tapered finger 3.6% 3/83
Abnormality of the hip joint 2.4% 2/83
Brachydactyly syndrome 2.4% 2/83
Broad hallux 2.4% 2/83
Clinodactyly 2.4% 2/83
Hand polydactyly 2.4% 2/83
Plagiocephaly 2.4% 2/83
Thoracic scoliosis 2.4% 2/83
Toe clinodactyly 2.4% 2/83
Abnormality of the thumb 1.2% 1/83
Abnormality of the 5th finger 1.2% 1/83
Abnormality of the distal phalanx of finger 1.2% 1/83
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 1.2% 1/83
Asymmetric short stature 1.2% 1/83
Asymmetric growth 1.2% 1/83
Brachycephaly 1.2% 1/83
Broad toe 1.2% 1/83
Broad distal phalanx of finger 1.2% 1/83
Broad thumb 1.2% 1/83
Clinodactyly of the 5th toe 1.2% 1/83
Enlarged interphalangeal joints 1.2% 1/83
Enlarged epiphyses of the distal phalanges of the hand 1.2% 1/83
Finger clinodactyly 1.2% 1/83
Genu valgum 1.2% 1/83
Hammertoe 1.2% 1/83
Hip dysplasia 1.2% 1/83
Joint contractures involving the joints of the feet 1.2% 1/83
Lambdoidal craniosynostosis 1.2% 1/83
Lower limb asymmetry 1.2% 1/83
Marked delay in bone age 1.2% 1/83
Patellar dislocation 1.2% 1/83
Pectus excavatum of inferior sternum 1.2% 1/83
Pectus carinatum 1.2% 1/83
Posterior plagiocephaly 1.2% 1/83
Prominent interphalangeal joints 1.2% 1/83
Radial deviation of finger 1.2% 1/83
Short foot 1.2% 1/83
Short metatarsal 1.2% 1/83
Short lower limbs 1.2% 1/83
Short neck 1.2% 1/83
Slender toe 1.2% 1/83
Small hand 1.2% 1/83
Split foot 1.2% 1/83
Superior pectus carinatum 1.2% 1/83
Thoracic kyphoscoliosis 1.2% 1/83
Type A brachydactyly 1.2% 1/83
Wormian bones 1.2% 1/83
2-3 toe syndactyly 1.2% 1/83
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 62.7% 47/75
High anterior hairline 16.0% 12/75
Eczema 14.7% 11/75
Prominent fingertip pads 6.7% 5/75
Small nail 6.7% 5/75
Hirsutism 5.3% 4/75
Abnormality of the nail 4.0% 3/75
Dry skin 4.0% 3/75
Single transverse palmar crease 4.0% 3/75
Abnormality of the fingernails 2.7% 2/75
Advanced eruption of teeth 2.7% 2/75
Fine hair 2.7% 2/75
Prominent eyelashes 2.7% 2/75
Sparse hair 2.7% 2/75
Thick hair 2.7% 2/75
Thin nail 2.7% 2/75
Abnormality of hair texture 1.3% 1/75
Abnormal position of hair whorl 1.3% 1/75
Abnormality of dental eruption 1.3% 1/75
Abnormality of dental enamel 1.3% 1/75
Abnormality of the nipple 1.3% 1/75
Absent toenail 1.3% 1/75
Cafe-au-lait spot 1.3% 1/75
Concave nail 1.3% 1/75
Cutis marmorata 1.3% 1/75
Deep-set nails 1.3% 1/75
Delayed eruption of teeth 1.3% 1/75
Hypoplastic fifth fingernail 1.3% 1/75
Ichthyosis 1.3% 1/75
Inverted nipples 1.3% 1/75
Localized skin lesion 1.3% 1/75
Nevus 1.3% 1/75
Numerous nevi 1.3% 1/75
Oligodontia 1.3% 1/75
Premature eruption of permanent teeth 1.3% 1/75
Short nail 1.3% 1/75
Thick nail 1.3% 1/75
Vascular skin abnormality 1.3% 1/75
Vitiligo 1.3% 1/75
2-3 toe syndactyly 1.3% 1/75
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 23.3% 14/60
Hypothyroidism 11.7% 7/60
Growth hormone deficiency 10.0% 6/60
Abnormality of the menstrual cycle 1.7% 1/60
Hirsutism 1.7% 1/60
Precocious puberty in males 1.7% 1/60
Abnormality of the metabolic system 7.3% 3/41
Obesity 4.9% 2/41
Abnormality of body weight 2.4% 1/41
Abnormality of the immune system 36.3% 29/80
Recurrent infections 22.5% 18/80
Recurrent upper respiratory tract infections 3.8% 3/80
Chronic otitis media 2.5% 2/80
Recurrent respiratory infections 2.5% 2/80
Recurrent otitis media 2.5% 2/80
Fever 1.3% 1/80
Recurrent urinary tract infections 1.3% 1/80