TRIO

Graph and Chart

Patient Overview : 51

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 60.8% 31/51
Female 39.2% 20/51
Indifferent 0% 0/51
Unknown 0% 0/51
General    
Birth Length abnormalities 2.0% 1/50
> P98 : Birth length greater than 97th percentile 2.0% 1/50
Birth Weight abnormalities 0% 0/50
Birth Head circumference abnormalities 0% 0/50
Current Height abnormalities 18.0% 9/50
< P3 : Short stature 16.0% 8/50
> P98 : Tall stature 2.0% 1/50
Current Weight abnormalities 38.0% 19/50
> P98 : Increased body weight 10.0% 5/50
< P3 : Decreased body weight 28.0% 14/50
Current Head circumference abnormalities 68.0% 34/50
< P3 : Microcephaly 44.0% 22/50
> P98 : Macrocephaly 24.0% 12/50
Neurology    
Neurological abnormalities 51.1% 24/47
Seizures 19.1% 9/47
Generalized hypotonia 6.4% 3/47
Tremor 6.4% 3/47
Global developmental delay 4.3% 2/47
Hyperreflexia 4.3% 2/47
Muscular hypotonia 4.3% 2/47
Absence seizures 2.1% 1/47
Ataxia 2.1% 1/47
Brisk reflexes 2.1% 1/47
Broad-based gait 2.1% 1/47
Delayed fine motor development 2.1% 1/47
Delayed gross motor development 2.1% 1/47
Demyelinating peripheral neuropathy 2.1% 1/47
Dystonia 2.1% 1/47
Febrile seizures 2.1% 1/47
Gait ataxia 2.1% 1/47
Generalized myoclonic seizures 2.1% 1/47
Hallucinations 2.1% 1/47
Intellectual disability, borderline 2.1% 1/47
Migraine 2.1% 1/47
Neonatal hypotonia 2.1% 1/47
Sleep disturbance 2.1% 1/47
Specific learning disability 2.1% 1/47
Toe walking 2.1% 1/47
Behavioral problems 87.8% 43/49
Short attention span 42.9% 21/49
Aggressive behavior 28.6% 14/49
Stereotypic behavior 24.5% 12/49
Autistic behavior 14.3% 7/49
Severe global developmental delay 14.3% 7/49
Attention deficit hyperactivity disorder 12.2% 6/49
Autism 12.2% 6/49
Obsessive-compulsive trait 12.2% 6/49
Mild global developmental delay 8.2% 4/49
Moderate global developmental delay 8.2% 4/49
Obsessive-compulsive behavior 8.2% 4/49
Anxiety 4.1% 2/49
Drooling 4.1% 2/49
Sleep disturbance 4.1% 2/49
Abnormal fear/anxiety-related behavior 2.0% 1/49
Behavioral abnormality 2.0% 1/49
Bipolar affective disorder 2.0% 1/49
Clumsiness 2.0% 1/49
Global developmental delay 2.0% 1/49
Hyperactivity 2.0% 1/49
Impaired pain sensation 2.0% 1/49
Poor eye contact 2.0% 1/49
Self-mutilation 2.0% 1/49
Brain abnormality 27.6% 8/29
Hypoplasia of the corpus callosum 6.9% 2/29
Abnormality of the subarachnoid space 3.4% 1/29
Abnormality of lateral ventricle 3.4% 1/29
Abnormality of the basal ganglia 3.4% 1/29
Aplasia/Hypoplasia of the corpus callosum 3.4% 1/29
Asymmetric ventricles 3.4% 1/29
Cavum septum pellucidum 3.4% 1/29
Delayed CNS myelination 3.4% 1/29
Gliosis 3.4% 1/29
Intraventricular hemorrhage 3.4% 1/29
Partial agenesis of the corpus callosum 3.4% 1/29
Progressive leukoencephalopathy 3.4% 1/29
Ventriculomegaly 3.4% 1/29
Facial abnormalities    
Abnormality of the ear 51.2% 21/41
Low-set ears 14.6% 6/41
Macrotia 9.8% 4/41
Abnormality of the crus of the helix 4.9% 2/41
Large earlobe 4.9% 2/41
Overfolded helix 4.9% 2/41
Protruding ear 4.9% 2/41
Abnormality of inferior crus of antihelix 2.4% 1/41
Abnormality of the outer ear 2.4% 1/41
Abnormal location of ears 2.4% 1/41
Cupped ear 2.4% 1/41
Large fleshy ears 2.4% 1/41
Microtia 2.4% 1/41
Prominent antihelix 2.4% 1/41
Abnormality of the eye 60.5% 23/38
Deeply set eye 10.5% 4/38
Downslanted palpebral fissures 10.5% 4/38
Highly arched eyebrow 10.5% 4/38
Hypertelorism 10.5% 4/38
Upslanted palpebral fissure 7.9% 3/38
Epicanthus 5.3% 2/38
Synophrys 5.3% 2/38
Hypotelorism 2.6% 1/38
Large eyes 2.6% 1/38
Long palpebral fissure 2.6% 1/38
Long eyelashes 2.6% 1/38
Prominent epicanthal folds 2.6% 1/38
Ptosis 2.6% 1/38
Sparse lateral eyebrow 2.6% 1/38
Strabismus 2.6% 1/38
Telecanthus 2.6% 1/38
Thick eyebrow 2.6% 1/38
Upper eyelid edema 2.6% 1/38
Abnormality of the nose 71.4% 30/42
Bulbous nose 21.4% 9/42
Long nose 11.9% 5/42
Anteverted nares 9.5% 4/42
Low hanging columella 9.5% 4/42
Depressed nasal bridge 7.1% 3/42
Abnormality of the external nose 4.8% 2/42
Broad nasal tip 4.8% 2/42
Prominent nose 4.8% 2/42
Prominent nasal bridge 4.8% 2/42
Short nose 4.8% 2/42
Wide nasal bridge 4.8% 2/42
Abnormality of the nasal bridge 2.4% 1/42
Nasolacrimal duct obstruction 2.4% 1/42
Pear-shaped nose 2.4% 1/42
Triangular nasal tip 2.4% 1/42
Underdeveloped nasal alae 2.4% 1/42
Wide nose 2.4% 1/42
Abnormality of the mouth 77.3% 34/44
Dental crowding 22.7% 10/44
Thin upper lip vermilion 18.2% 8/44
High palate 9.1% 4/44
Delayed eruption of permanent teeth 6.8% 3/44
Exaggerated cupid's bow 6.8% 3/44
Thick upper lip vermilion 6.8% 3/44
Thick lower lip vermilion 6.8% 3/44
Wide mouth 6.8% 3/44
Abnormality of upper lip vermillion 4.5% 2/44
Abnormality of upper lip 4.5% 2/44
Failure of eruption of permanent teeth 4.5% 2/44
Macrodontia of permanent maxillary central incisor 4.5% 2/44
Retrognathia 4.5% 2/44
Short lingual frenulum 4.5% 2/44
Thick vermilion border 4.5% 2/44
Unilateral cleft lip 4.5% 2/44
Abnormality of dental enamel 2.3% 1/44
Advanced eruption of teeth 2.3% 1/44
Agenesis of molar 2.3% 1/44
Ankyloglossia 2.3% 1/44
Carious teeth 2.3% 1/44
Delayed eruption of teeth 2.3% 1/44
Long philtrum 2.3% 1/44
Macrodontia 2.3% 1/44
Microdontia 2.3% 1/44
Open mouth 2.3% 1/44
Short philtrum 2.3% 1/44
Tented upper lip vermilion 2.3% 1/44
Visual and hearing impairments    
Abnormal hearing 5.7% 2/35
Hyperacusis 5.7% 2/35
Abnormal vision 11.4% 4/35
Astigmatism 2.9% 1/35
Cortical visual impairment 2.9% 1/35
Hypermetropia 2.9% 1/35
Nasolacrimal duct obstruction 2.9% 1/35
Optic atrophy 2.9% 1/35
Heart    
Abnormality of the heart 8.9% 4/45
Aortic root dilatation 2.2% 1/45
Aortic regurgitation 2.2% 1/45
Arrhythmia 2.2% 1/45
Atria septal defect 2.2% 1/45
Bicuspid aortic valve 2.2% 1/45
Tetralogy of Fallot 2.2% 1/45
Pulmonary    
Abnormality of the lungs 6.3% 1/16
Recurrent respiratory infections 6.3% 1/16
Gastrointestinal    
Gastrointestinal abnormalities 82.2% 37/45
Constipation 40.0% 18/45
Feeding difficulties in infancy 35.6% 16/45
Feeding difficulties 20.0% 9/45
Gastroesophageal reflux 6.7% 3/45
Gastrostomy tube feeding in infancy 6.7% 3/45
Episodic vomiting 4.4% 2/45
Abnormal eating behavior 2.2% 1/45
Anal fistula 2.2% 1/45
Chewing difficulties 2.2% 1/45
Dysphagia 2.2% 1/45
Esophagitis 2.2% 1/45
Failure to thrive 2.2% 1/45
Intestinal malrotation 2.2% 1/45
Nasal regurgitation 2.2% 1/45
Poor suck 2.2% 1/45
Vomiting 2.2% 1/45
Urogenital    
Abnormality of the urogenital system 11.1% 5/45
Urinary incontinence 4.4% 2/45
Neurogenic bladder 2.2% 1/45
Phimosis 2.2% 1/45
Testicular torsion 2.2% 1/45
Skeleton    
Skeletal abnormalities 73.3% 33/45
Tapered finger 33.3% 15/45
Short finger 28.9% 13/45
Scoliosis 20.0% 9/45
Clinodactyly of the 5th finger 8.9% 4/45
Enlarged proximal interphalangeal joints 8.9% 4/45
2-3 toe syndactyly 8.9% 4/45
Kyphosis 6.7% 3/45
Pes planus 6.7% 3/45
Brachydactyly syndrome 4.4% 2/45
Joint hypermobility 4.4% 2/45
Short toe 4.4% 2/45
Abnormality of the vertebrae 2.2% 1/45
Clubbing of toes 2.2% 1/45
Hemiatrophy of lower limb 2.2% 1/45
Joint laxity 2.2% 1/45
Limb dystonia 2.2% 1/45
Limited elbow extension and supination 2.2% 1/45
Limited knee flexion 2.2% 1/45
Lumbar scoliosis 2.2% 1/45
Narrow foot 2.2% 1/45
Overlapping toe 2.2% 1/45
Pectus excavatum 2.2% 1/45
Pes cavus 2.2% 1/45
Plagiocephaly 2.2% 1/45
Proximal placement of thumb 2.2% 1/45
Sandal gap 2.2% 1/45
Scapular winging 2.2% 1/45
Short thumb 2.2% 1/45
Short metacarpal 2.2% 1/45
Short foot 2.2% 1/45
Small hand 2.2% 1/45
Tapering pointed ends of distal finger phalanges 2.2% 1/45
Thoracic kyphoscoliosis 2.2% 1/45
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 28.6% 12/42
Low anterior hairline 4.8% 2/42
Supernumerary nipple 4.8% 2/42
Abnormality of the hairline 2.4% 1/42
Abnormality of the fingernails 2.4% 1/42
Abnormality of hair growth rate 2.4% 1/42
Abnormality of the breast 2.4% 1/42
Absent fifth toenail 2.4% 1/42
Aplasia cutis congenita 2.4% 1/42
Dry skin 2.4% 1/42
Frontal upsweep of hair 2.4% 1/42
Hirsutism 2.4% 1/42
Hyperhidrosis 2.4% 1/42
Inverted nipples 2.4% 1/42
Multiple cafe-au-lait spots 2.4% 1/42
Patchy alopecia 2.4% 1/42
Short nail 2.4% 1/42
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 11.1% 2/18
Hypothyroidism 11.1% 2/18
Abnormality of the metabolic system 6.3% 1/16
Hypercalcemia 6.3% 1/16
Abnormality of the immune system 5.9% 1/17
Urticaria 5.9% 1/17