TRIO
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 64.7% | 22/34 |
| Female | 35.3% | 12/34 |
| Indifferent | 0% | 0/34 |
| Unknown | 0% | 0/34 |
| General | ||
| Birth Length abnormalities | 3.0% | 1/33 |
| > P98 : Birth length greater than 97th percentile | 3.0% | 1/33 |
| Birth Weight abnormalities | 0% | 0/33 |
| Birth Head circumference abnormalities | 0% | 0/33 |
| Current Height abnormalities | 15.2% | 5/33 |
| < P3 : Short stature | 15.2% | 5/33 |
| Current Weight abnormalities | 36.4% | 12/33 |
| > P98 : Increased body weight | 6.1% | 2/33 |
| < P3 : Decreased body weight | 30.3% | 10/33 |
| Current Head circumference abnormalities | 69.7% | 23/33 |
| < P3 : Microcephaly | 45.5% | 15/33 |
| > P98 : Macrocephaly | 24.2% | 8/33 |
| Neurology | ||
| Neurological abnormalities | 42.4% | 14/33 |
| Seizures | 15.2% | 5/33 |
| Global developmental delay | 6.1% | 2/33 |
| Hyperreflexia | 6.1% | 2/33 |
| Muscular hypotonia | 6.1% | 2/33 |
| Tremor | 6.1% | 2/33 |
| Ataxia | 3.0% | 1/33 |
| Broad-based gait | 3.0% | 1/33 |
| Delayed fine motor development | 3.0% | 1/33 |
| Delayed gross motor development | 3.0% | 1/33 |
| Demyelinating peripheral neuropathy | 3.0% | 1/33 |
| Febrile seizures | 3.0% | 1/33 |
| Gait ataxia | 3.0% | 1/33 |
| Intellectual disability, borderline | 3.0% | 1/33 |
| Neonatal hypotonia | 3.0% | 1/33 |
| Specific learning disability | 3.0% | 1/33 |
| Behavioral problems | 81.8% | 27/33 |
| Short attention span | 33.3% | 11/33 |
| Aggressive behavior | 24.2% | 8/33 |
| Autistic behavior | 21.2% | 7/33 |
| Stereotypic behavior | 21.2% | 7/33 |
| Obsessive-compulsive trait | 18.2% | 6/33 |
| Attention deficit hyperactivity disorder | 15.2% | 5/33 |
| Autism | 6.1% | 2/33 |
| Drooling | 6.1% | 2/33 |
| Sleep disturbance | 6.1% | 2/33 |
| Abnormal fear/anxiety-related behavior | 3.0% | 1/33 |
| Anxiety | 3.0% | 1/33 |
| Behavioral abnormality | 3.0% | 1/33 |
| Impaired pain sensation | 3.0% | 1/33 |
| Poor eye contact | 3.0% | 1/33 |
| Self-mutilation | 3.0% | 1/33 |
| Brain abnormality | 17.6% | 3/17 |
| Abnormality of the subarachnoid space | 5.9% | 1/17 |
| Aplasia/Hypoplasia of the corpus callosum | 5.9% | 1/17 |
| Asymmetric ventricles | 5.9% | 1/17 |
| Cavum septum pellucidum | 5.9% | 1/17 |
| Partial agenesis of the corpus callosum | 5.9% | 1/17 |
| Ventriculomegaly | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the ear | 35.5% | 11/31 |
| Large earlobe | 6.5% | 2/31 |
| Macrotia | 6.5% | 2/31 |
| Overfolded helix | 6.5% | 2/31 |
| Protruding ear | 6.5% | 2/31 |
| Abnormality of inferior crus of antihelix | 3.2% | 1/31 |
| Abnormal location of ears | 3.2% | 1/31 |
| Abnormality of the crus of the helix | 3.2% | 1/31 |
| Abnormality of the outer ear | 3.2% | 1/31 |
| Cupped ear | 3.2% | 1/31 |
| Microtia | 3.2% | 1/31 |
| Prominent antihelix | 3.2% | 1/31 |
| Abnormality of the eye | 54.8% | 17/31 |
| Deeply set eye | 12.9% | 4/31 |
| Highly arched eyebrow | 12.9% | 4/31 |
| Hypertelorism | 9.7% | 3/31 |
| Downslanted palpebral fissures | 6.5% | 2/31 |
| Epicanthus | 6.5% | 2/31 |
| Synophrys | 6.5% | 2/31 |
| Upslanted palpebral fissure | 6.5% | 2/31 |
| Hypotelorism | 3.2% | 1/31 |
| Long palpebral fissure | 3.2% | 1/31 |
| Long eyelashes | 3.2% | 1/31 |
| Ptosis | 3.2% | 1/31 |
| Sparse lateral eyebrow | 3.2% | 1/31 |
| Telecanthus | 3.2% | 1/31 |
| Thick eyebrow | 3.2% | 1/31 |
| Upper eyelid edema | 3.2% | 1/31 |
| Abnormality of the nose | 61.3% | 19/31 |
| Anteverted nares | 12.9% | 4/31 |
| Low hanging columella | 12.9% | 4/31 |
| Depressed nasal bridge | 9.7% | 3/31 |
| Abnormality of the external nose | 6.5% | 2/31 |
| Bulbous nose | 6.5% | 2/31 |
| Long nose | 6.5% | 2/31 |
| Wide nasal bridge | 6.5% | 2/31 |
| Abnormality of the nasal bridge | 3.2% | 1/31 |
| Broad nasal tip | 3.2% | 1/31 |
| Pear-shaped nose | 3.2% | 1/31 |
| Prominent nasal bridge | 3.2% | 1/31 |
| Prominent nose | 3.2% | 1/31 |
| Short nose | 3.2% | 1/31 |
| Triangular nasal tip | 3.2% | 1/31 |
| Underdeveloped nasal alae | 3.2% | 1/31 |
| Abnormality of the mouth | 67.7% | 21/31 |
| Dental crowding | 22.6% | 7/31 |
| High palate | 12.9% | 4/31 |
| Wide mouth | 9.7% | 3/31 |
| Exaggerated cupid's bow | 6.5% | 2/31 |
| Failure of eruption of permanent teeth | 6.5% | 2/31 |
| Retrognathia | 6.5% | 2/31 |
| Thick upper lip vermilion | 6.5% | 2/31 |
| Thick vermilion border | 6.5% | 2/31 |
| Thick lower lip vermilion | 6.5% | 2/31 |
| Thin upper lip vermilion | 6.5% | 2/31 |
| Abnormality of upper lip vermillion | 3.2% | 1/31 |
| Advanced eruption of teeth | 3.2% | 1/31 |
| Ankyloglossia | 3.2% | 1/31 |
| Delayed eruption of permanent teeth | 3.2% | 1/31 |
| Delayed eruption of teeth | 3.2% | 1/31 |
| Long philtrum | 3.2% | 1/31 |
| Short philtrum | 3.2% | 1/31 |
| Short lingual frenulum | 3.2% | 1/31 |
| Tented upper lip vermilion | 3.2% | 1/31 |
| Unilateral cleft lip | 3.2% | 1/31 |
| Visual and hearing impairments | ||
| Abnormal hearing | 5.9% | 2/34 |
| Hyperacusis | 5.9% | 2/34 |
| Abnormal vision | 11.8% | 4/34 |
| Astigmatism | 2.9% | 1/34 |
| Cortical visual impairment | 2.9% | 1/34 |
| Hypermetropia | 2.9% | 1/34 |
| Nasolacrimal duct obstruction | 2.9% | 1/34 |
| Optic atrophy | 2.9% | 1/34 |
| Pulmonary | ||
| Abnormality of the lungs | 50.0% | 1/2 |
| Recurrent respiratory infections | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 83.3% | 25/30 |
| Constipation | 33.3% | 10/30 |
| Feeding difficulties in infancy | 33.3% | 10/30 |
| Feeding difficulties | 23.3% | 7/30 |
| Gastroesophageal reflux | 10.0% | 3/30 |
| Episodic vomiting | 6.7% | 2/30 |
| Abnormal eating behavior | 3.3% | 1/30 |
| Anal fistula | 3.3% | 1/30 |
| Chewing difficulties | 3.3% | 1/30 |
| Dysphagia | 3.3% | 1/30 |
| Failure to thrive | 3.3% | 1/30 |
| Nasal regurgitation | 3.3% | 1/30 |
| Vomiting | 3.3% | 1/30 |
| Urogenital | ||
| Abnormality of the urogenital system | 12.9% | 4/31 |
| Urinary incontinence | 6.5% | 2/31 |
| Phimosis | 3.2% | 1/31 |
| Testicular torsion | 3.2% | 1/31 |
| Skeleton | ||
| Skeletal abnormalities | 71.9% | 23/32 |
| Tapered finger | 31.3% | 10/32 |
| Short finger | 25.0% | 8/32 |
| Scoliosis | 18.8% | 6/32 |
| Clinodactyly of the 5th finger | 12.5% | 4/32 |
| Enlarged proximal interphalangeal joints | 12.5% | 4/32 |
| 2-3 toe syndactyly | 9.4% | 3/32 |
| Kyphosis | 6.3% | 2/32 |
| Pes planus | 6.3% | 2/32 |
| Abnormality of the vertebrae | 3.1% | 1/32 |
| Brachydactyly syndrome | 3.1% | 1/32 |
| Hemiatrophy of lower limb | 3.1% | 1/32 |
| Joint hypermobility | 3.1% | 1/32 |
| Joint laxity | 3.1% | 1/32 |
| Limited knee flexion | 3.1% | 1/32 |
| Limited elbow extension and supination | 3.1% | 1/32 |
| Lumbar scoliosis | 3.1% | 1/32 |
| Narrow foot | 3.1% | 1/32 |
| Overlapping toe | 3.1% | 1/32 |
| Pectus excavatum | 3.1% | 1/32 |
| Plagiocephaly | 3.1% | 1/32 |
| Proximal placement of thumb | 3.1% | 1/32 |
| Sandal gap | 3.1% | 1/32 |
| Scapular winging | 3.1% | 1/32 |
| Short metacarpal | 3.1% | 1/32 |
| Short foot | 3.1% | 1/32 |
| Short toe | 3.1% | 1/32 |
| Short thumb | 3.1% | 1/32 |
| Small hand | 3.1% | 1/32 |
| Tapering pointed ends of distal finger phalanges | 3.1% | 1/32 |
| Thoracic kyphoscoliosis | 3.1% | 1/32 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 23.5% | 8/34 |
| Low anterior hairline | 5.9% | 2/34 |
| Abnormality of hair growth rate | 2.9% | 1/34 |
| Abnormality of the fingernails | 2.9% | 1/34 |
| Abnormality of the hairline | 2.9% | 1/34 |
| Absent fifth toenail | 2.9% | 1/34 |
| Aplasia cutis congenita | 2.9% | 1/34 |
| Dry skin | 2.9% | 1/34 |
| Frontal upsweep of hair | 2.9% | 1/34 |
| Hirsutism | 2.9% | 1/34 |
| Hyperhidrosis | 2.9% | 1/34 |
| Patchy alopecia | 2.9% | 1/34 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 7.1% | 1/14 |
| Hypercalcemia | 7.1% | 1/14 |