TRIO
| 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 gross motor development | 2.1% | 1/47 |
| Delayed fine 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 lateral ventricle | 3.4% | 1/29 |
| Abnormality of the basal ganglia | 3.4% | 1/29 |
| Abnormality of the subarachnoid space | 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 the outer ear | 2.4% | 1/41 |
| Abnormality of inferior crus of antihelix | 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 eyelashes | 2.6% | 1/38 |
| Long palpebral fissure | 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 nasal bridge | 4.8% | 2/42 |
| Prominent nose | 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 | 4.5% | 2/44 |
| Abnormality of upper lip vermillion | 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 |
| Gastrostomy tube feeding in infancy | 6.7% | 3/45 |
| Gastroesophageal reflux | 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 knee flexion | 2.2% | 1/45 |
| Limited elbow extension and supination | 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 breast | 2.4% | 1/42 |
| Abnormality of hair growth rate | 2.4% | 1/42 |
| Abnormality of the fingernails | 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 |