TRRAP
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 44.3% | 27/61 |
| Female | 55.7% | 34/61 |
| Indifferent | 0% | 0/61 |
| Unknown | 0% | 0/61 |
| General | ||
| Birth Length abnormalities | 1.6% | 1/61 |
| > P98 : Birth length greater than 97th percentile | 1.6% | 1/61 |
| Birth Weight abnormalities | 6.6% | 4/61 |
| < P3 : Small for gestational age | 4.9% | 3/61 |
| > P98 : Large for gestational age | 1.6% | 1/61 |
| Birth Head circumference abnormalities | 1.6% | 1/61 |
| > P98 : Macrocephaly at birth | 1.6% | 1/61 |
| Current Height abnormalities | 31.1% | 19/61 |
| < P3 : Short stature | 31.1% | 19/61 |
| Current Weight abnormalities | 23.0% | 14/61 |
| < P3 : Decreased body weight | 19.7% | 12/61 |
| > P98 : Increased body weight | 3.3% | 2/61 |
| Current Head circumference abnormalities | 36.1% | 22/61 |
| < P3 : Microcephaly | 29.5% | 18/61 |
| > P98 : Macrocephaly | 6.6% | 4/61 |
| Neurology | ||
| Neurological abnormalities | 76.6% | 36/47 |
| Hypotonia | 21.3% | 10/47 |
| Sleep disturbance | 10.6% | 5/47 |
| Bilateral tonic-clonic seizure | 8.5% | 4/47 |
| Ankle clonus | 4.3% | 2/47 |
| Autism | 4.3% | 2/47 |
| Focal-onset seizure | 4.3% | 2/47 |
| Hypertonia | 4.3% | 2/47 |
| Infantile spasms | 4.3% | 2/47 |
| Microcephaly | 4.3% | 2/47 |
| Severe muscular hypotonia | 4.3% | 2/47 |
| Abnormality of coordination | 2.1% | 1/47 |
| Abnormality of movement | 2.1% | 1/47 |
| Absent patellar reflexes | 2.1% | 1/47 |
| Attention deficit hyperactivity disorder | 2.1% | 1/47 |
| Bilateral tonic-clonic seizure with focal onset | 2.1% | 1/47 |
| Brisk reflexes | 2.1% | 1/47 |
| Cerebral palsy | 2.1% | 1/47 |
| Clonus | 2.1% | 1/47 |
| Delayed speech and language development | 2.1% | 1/47 |
| Drooling | 2.1% | 1/47 |
| Dyskinesia | 2.1% | 1/47 |
| Epileptic encephalopathy | 2.1% | 1/47 |
| Facial hypotonia | 2.1% | 1/47 |
| Floppy infant | 2.1% | 1/47 |
| Focal aware seizure | 2.1% | 1/47 |
| Focal tonic seizure | 2.1% | 1/47 |
| Generalized hypotonia | 2.1% | 1/47 |
| Hyperreflexia | 2.1% | 1/47 |
| Hypothermia | 2.1% | 1/47 |
| Impaired mastication | 2.1% | 1/47 |
| Intellectual disability | 2.1% | 1/47 |
| Intention tremor | 2.1% | 1/47 |
| Limb hypertonia | 2.1% | 1/47 |
| Lower limb hyperreflexia | 2.1% | 1/47 |
| Lower limb spasticity | 2.1% | 1/47 |
| Migraine | 2.1% | 1/47 |
| Motor stereotypy | 2.1% | 1/47 |
| Neonatal hypotonia | 2.1% | 1/47 |
| obsolete Hypersomnia | 2.1% | 1/47 |
| obsolete Infantile axial hypotonia | 2.1% | 1/47 |
| Obstructive sleep apnea | 2.1% | 1/47 |
| Oral-pharyngeal dysphagia | 2.1% | 1/47 |
| Profound global developmental delay | 2.1% | 1/47 |
| Seizure | 2.1% | 1/47 |
| Sensorimotor neuropathy | 2.1% | 1/47 |
| Spasticity | 2.1% | 1/47 |
| Spastic paraplegia | 2.1% | 1/47 |
| Spastic paraparesis | 2.1% | 1/47 |
| Tremor | 2.1% | 1/47 |
| Behavioral problems | 83.8% | 31/37 |
| Autism | 37.8% | 14/37 |
| Attention deficit hyperactivity disorder | 13.5% | 5/37 |
| Autistic behavior | 10.8% | 4/37 |
| Aggressive behavior | 5.4% | 2/37 |
| Anxiety | 5.4% | 2/37 |
| Hyperactivity | 5.4% | 2/37 |
| Irritability | 5.4% | 2/37 |
| Oppositional defiant disorder | 5.4% | 2/37 |
| Self-injurious behavior | 5.4% | 2/37 |
| Atypical behavior | 2.7% | 1/37 |
| Compulsive behaviors | 2.7% | 1/37 |
| Dyslexia | 2.7% | 1/37 |
| Emotional lability | 2.7% | 1/37 |
| Encopresis | 2.7% | 1/37 |
| Enuresis | 2.7% | 1/37 |
| Low frustration tolerance | 2.7% | 1/37 |
| Memory impairment | 2.7% | 1/37 |
| Motor stereotypy | 2.7% | 1/37 |
| obsolete Abnormal aggressive, impulsive or violent behavior | 2.7% | 1/37 |
| Psychosis | 2.7% | 1/37 |
| Recurrent hand flapping | 2.7% | 1/37 |
| Short attention span | 2.7% | 1/37 |
| Brain abnormality | 60.0% | 18/30 |
| Ventriculomegaly | 16.7% | 5/30 |
| Dandy-Walker malformation | 10.0% | 3/30 |
| Cerebellar atrophy | 6.7% | 2/30 |
| Cerebellar vermis hypoplasia | 6.7% | 2/30 |
| Inferior cerebellar vermis hypoplasia | 6.7% | 2/30 |
| Polymicrogyria | 6.7% | 2/30 |
| Abnormal cerebellar vermis morphology | 3.3% | 1/30 |
| Abnormal cerebral ventricle morphology | 3.3% | 1/30 |
| Abnormality of the clivus | 3.3% | 1/30 |
| Abnormal cerebral white matter morphology | 3.3% | 1/30 |
| Atrophy/Degeneration affecting the brainstem | 3.3% | 1/30 |
| Cavum septum pellucidum | 3.3% | 1/30 |
| Cerebral white matter atrophy | 3.3% | 1/30 |
| Cerebellar hypoplasia | 3.3% | 1/30 |
| Cerebral cortical atrophy | 3.3% | 1/30 |
| Chiari type I malformation | 3.3% | 1/30 |
| Chiari malformation | 3.3% | 1/30 |
| Choroid plexus cyst | 3.3% | 1/30 |
| Cortical dysplasia | 3.3% | 1/30 |
| Delayed myelination | 3.3% | 1/30 |
| Diffuse white matter abnormalities | 3.3% | 1/30 |
| Dilated fourth ventricle | 3.3% | 1/30 |
| Encephalomalacia | 3.3% | 1/30 |
| Hypoplasia of the brainstem | 3.3% | 1/30 |
| Hypoplasia of the pons | 3.3% | 1/30 |
| Hypoplasia of the corpus callosum | 3.3% | 1/30 |
| Intracranial hemorrhage | 3.3% | 1/30 |
| Occipital cortical atrophy | 3.3% | 1/30 |
| Porencephalic cyst | 3.3% | 1/30 |
| Small pituitary gland | 3.3% | 1/30 |
| Widened subarachnoid space | 3.3% | 1/30 |
| Facial abnormalities | ||
| Abnormality of the ear | 40.0% | 20/50 |
| Low-set ears | 16.0% | 8/50 |
| Large earlobe | 4.0% | 2/50 |
| Macrotia | 4.0% | 2/50 |
| obsolete Low-set, posteriorly rotated ears | 4.0% | 2/50 |
| Overfolded helix | 4.0% | 2/50 |
| Posteriorly rotated ears | 4.0% | 2/50 |
| Abnormal pinna morphology | 2.0% | 1/50 |
| Aplasia/Hypoplasia of the tragus | 2.0% | 1/50 |
| Cupped ear | 2.0% | 1/50 |
| Microtia | 2.0% | 1/50 |
| Preauricular skin tag | 2.0% | 1/50 |
| Protruding ear | 2.0% | 1/50 |
| Small earlobe | 2.0% | 1/50 |
| Thickened helices | 2.0% | 1/50 |
| Abnormality of the eye | 72.0% | 36/50 |
| Epicanthus | 14.0% | 7/50 |
| Hypertelorism | 14.0% | 7/50 |
| Deeply set eye | 12.0% | 6/50 |
| Highly arched eyebrow | 12.0% | 6/50 |
| Upslanted palpebral fissure | 8.0% | 4/50 |
| Downslanted palpebral fissures | 6.0% | 3/50 |
| Short palpebral fissure | 6.0% | 3/50 |
| Telecanthus | 6.0% | 3/50 |
| Almond-shaped palpebral fissure | 4.0% | 2/50 |
| Narrow palpebral fissure | 4.0% | 2/50 |
| obsolete Prominent epicanthal folds | 4.0% | 2/50 |
| Thick eyebrow | 4.0% | 2/50 |
| Unilateral ptosis | 4.0% | 2/50 |
| Blepharophimosis | 2.0% | 1/50 |
| Ectropion | 2.0% | 1/50 |
| Long palpebral fissure | 2.0% | 1/50 |
| Medial flaring of the eyebrow | 2.0% | 1/50 |
| obsolete Sparse and thin eyebrow | 2.0% | 1/50 |
| Ptosis | 2.0% | 1/50 |
| Strabismus | 2.0% | 1/50 |
| Synophrys | 2.0% | 1/50 |
| Visual impairment | 2.0% | 1/50 |
| Abnormality of the nose | 39.2% | 20/51 |
| Depressed nasal bridge | 17.6% | 9/51 |
| Anteverted nares | 11.8% | 6/51 |
| Narrow nose | 3.9% | 2/51 |
| Short nose | 3.9% | 2/51 |
| Wide nasal bridge | 3.9% | 2/51 |
| Abnormal nasal morphology | 2.0% | 1/51 |
| Abnormal columella morphology | 2.0% | 1/51 |
| Broad nasal tip | 2.0% | 1/51 |
| Bulbous nose | 2.0% | 1/51 |
| Depressed nasal tip | 2.0% | 1/51 |
| Pear-shaped nose | 2.0% | 1/51 |
| Prominent nasal tip | 2.0% | 1/51 |
| Prominent nasal bridge | 2.0% | 1/51 |
| Prominent nose | 2.0% | 1/51 |
| Short philtrum | 2.0% | 1/51 |
| Smooth philtrum | 2.0% | 1/51 |
| Thick nasal alae | 2.0% | 1/51 |
| Abnormality of the mouth | 62.7% | 32/51 |
| Thin upper lip vermilion | 19.6% | 10/51 |
| Wide mouth | 9.8% | 5/51 |
| Cleft palate | 7.8% | 4/51 |
| High palate | 7.8% | 4/51 |
| Micrognathia | 7.8% | 4/51 |
| Smooth philtrum | 7.8% | 4/51 |
| Narrow mouth | 5.9% | 3/51 |
| Dental crowding | 3.9% | 2/51 |
| Everted lower lip vermilion | 3.9% | 2/51 |
| Pierre-Robin sequence | 3.9% | 2/51 |
| Short philtrum | 3.9% | 2/51 |
| Thick vermilion border | 3.9% | 2/51 |
| Thick upper lip vermilion | 3.9% | 2/51 |
| Abnormal alveolar ridge morphology | 2.0% | 1/51 |
| Abnormality of the dentition | 2.0% | 1/51 |
| Agenesis of maxillary lateral incisor | 2.0% | 1/51 |
| Anteverted nares | 2.0% | 1/51 |
| Carious teeth | 2.0% | 1/51 |
| Chapped lip | 2.0% | 1/51 |
| Delayed eruption of teeth | 2.0% | 1/51 |
| Diastema | 2.0% | 1/51 |
| Downturned corners of mouth | 2.0% | 1/51 |
| Everted upper lip vermilion | 2.0% | 1/51 |
| High, narrow palate | 2.0% | 1/51 |
| Macrodontia of permanent maxillary central incisor | 2.0% | 1/51 |
| Mandibular prognathia | 2.0% | 1/51 |
| Microdontia | 2.0% | 1/51 |
| Orofacial cleft | 2.0% | 1/51 |
| Protruding tongue | 2.0% | 1/51 |
| Retrognathia | 2.0% | 1/51 |
| Tented philtrum | 2.0% | 1/51 |
| Thick lower lip vermilion | 2.0% | 1/51 |
| Tooth malposition | 2.0% | 1/51 |
| Widely spaced teeth | 2.0% | 1/51 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.7% | 8/48 |
| Sensorineural hearing impairment | 4.2% | 2/48 |
| Unilateral deafness | 4.2% | 2/48 |
| Abnormal lateral semicircular canal morphology | 2.1% | 1/48 |
| Abnormality of the inner ear | 2.1% | 1/48 |
| Bilateral sensorineural hearing impairment | 2.1% | 1/48 |
| Conductive hearing impairment | 2.1% | 1/48 |
| Glue ear | 2.1% | 1/48 |
| Hearing impairment | 2.1% | 1/48 |
| Mid-frequency hearing loss | 2.1% | 1/48 |
| Abnormal vision | 40.8% | 20/49 |
| Astigmatism | 8.2% | 4/49 |
| Hypermetropia | 8.2% | 4/49 |
| Strabismus | 8.2% | 4/49 |
| Esotropia | 6.1% | 3/49 |
| Myopia | 6.1% | 3/49 |
| Optic nerve hypoplasia | 4.1% | 2/49 |
| Amblyopia | 2.0% | 1/49 |
| Blindness | 2.0% | 1/49 |
| Central posterior corneal opacity | 2.0% | 1/49 |
| Cerebral visual impairment | 2.0% | 1/49 |
| Corneal opacity | 2.0% | 1/49 |
| Hyperopic astigmatism | 2.0% | 1/49 |
| Iris coloboma | 2.0% | 1/49 |
| Lacrimal duct stenosis | 2.0% | 1/49 |
| Macular hypoplasia | 2.0% | 1/49 |
| Ocular anterior segment dysgenesis | 2.0% | 1/49 |
| Optic disc coloboma | 2.0% | 1/49 |
| Visual impairment | 2.0% | 1/49 |
| Heart | ||
| Abnormality of the heart | 45.9% | 17/37 |
| Ventricular septal defect | 16.2% | 6/37 |
| Patent ductus arteriosus | 10.8% | 4/37 |
| Atrial septal defect | 8.1% | 3/37 |
| Bicuspid aortic valve | 5.4% | 2/37 |
| Patent foramen ovale | 5.4% | 2/37 |
| Tetralogy of Fallot | 5.4% | 2/37 |
| Abnormal heart morphology | 2.7% | 1/37 |
| Biventricular hypertrophy | 2.7% | 1/37 |
| Coarctation of aorta | 2.7% | 1/37 |
| Ebstein anomaly of the tricuspid valve | 2.7% | 1/37 |
| Heart murmur | 2.7% | 1/37 |
| Left superior vena cava draining to coronary sinus | 2.7% | 1/37 |
| Patent ductus arteriosus after birth at term | 2.7% | 1/37 |
| Primum atrial septal defect | 2.7% | 1/37 |
| Pulmonary artery stenosis | 2.7% | 1/37 |
| Pulmonary artery hypoplasia | 2.7% | 1/37 |
| Subvalvular aortic stenosis | 2.7% | 1/37 |
| Supraventricular tachycardia | 2.7% | 1/37 |
| Pulmonary | ||
| Abnormality of the lungs | 37.5% | 9/24 |
| Asthma | 12.5% | 3/24 |
| Laryngomalacia | 8.3% | 2/24 |
| Tracheomalacia | 8.3% | 2/24 |
| Aspiration | 4.2% | 1/24 |
| Choanal stenosis | 4.2% | 1/24 |
| Pneumonia | 4.2% | 1/24 |
| Pulmonary edema | 4.2% | 1/24 |
| Recurrent upper respiratory tract infections | 4.2% | 1/24 |
| Respiratory infections in early life | 4.2% | 1/24 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 45.2% | 19/42 |
| Feeding difficulties | 21.4% | 9/42 |
| Gastroesophageal reflux | 16.7% | 7/42 |
| Constipation | 11.9% | 5/42 |
| Feeding difficulties in infancy | 7.1% | 3/42 |
| Chronic constipation | 4.8% | 2/42 |
| Abdominal pain | 2.4% | 1/42 |
| Diarrhea | 2.4% | 1/42 |
| Duodenal atresia | 2.4% | 1/42 |
| Gastrostomy tube feeding in infancy | 2.4% | 1/42 |
| Umbilical hernia | 2.4% | 1/42 |
| Urogenital | ||
| Abnormality of the urogenital system | 40.6% | 13/32 |
| Hydronephrosis | 12.5% | 4/32 |
| Hypospadias | 12.5% | 4/32 |
| Bilateral cryptorchidism | 6.3% | 2/32 |
| Cryptorchidism | 6.3% | 2/32 |
| Multicystic kidney dysplasia | 6.3% | 2/32 |
| Uterus didelphys | 6.3% | 2/32 |
| Abnormal penis morphology | 3.1% | 1/32 |
| Inguinal hernia | 3.1% | 1/32 |
| Micropenis | 3.1% | 1/32 |
| Microphallus | 3.1% | 1/32 |
| Pyelonephritis | 3.1% | 1/32 |
| Recurrent urinary tract infections | 3.1% | 1/32 |
| Renal hypoplasia/aplasia | 3.1% | 1/32 |
| Renal cyst | 3.1% | 1/32 |
| Small scrotum | 3.1% | 1/32 |
| Unilateral renal hypoplasia | 3.1% | 1/32 |
| Vesicoureteral reflux | 3.1% | 1/32 |
| Skeleton | ||
| Skeletal abnormalities | 64.7% | 33/51 |
| Clinodactyly of the 5th finger | 9.8% | 5/51 |
| Arachnodactyly | 7.8% | 4/51 |
| Pes planus | 5.9% | 3/51 |
| Scoliosis | 5.9% | 3/51 |
| Tapered finger | 5.9% | 3/51 |
| Delayed skeletal maturation | 3.9% | 2/51 |
| Hip dysplasia | 3.9% | 2/51 |
| Kyphoscoliosis | 3.9% | 2/51 |
| Long fingers | 3.9% | 2/51 |
| Overlapping toe | 3.9% | 2/51 |
| Short foot | 3.9% | 2/51 |
| Short neck | 3.9% | 2/51 |
| Small hand | 3.9% | 2/51 |
| 2-3 toe syndactyly | 3.9% | 2/51 |
| Abnormal toe phalanx morphology | 2.0% | 1/51 |
| Abnormal vertebral morphology | 2.0% | 1/51 |
| Broad ribs | 2.0% | 1/51 |
| Broad toe | 2.0% | 1/51 |
| Clinodactyly of the 5th toe | 2.0% | 1/51 |
| Congenital muscular torticollis | 2.0% | 1/51 |
| Cubitus valgus | 2.0% | 1/51 |
| Enlarged thorax | 2.0% | 1/51 |
| Flexion contracture of finger | 2.0% | 1/51 |
| Hip dislocation | 2.0% | 1/51 |
| Hypotonia | 2.0% | 1/51 |
| Joint hypermobility | 2.0% | 1/51 |
| Long palm | 2.0% | 1/51 |
| Long toe | 2.0% | 1/51 |
| obsolete Joint laxity | 2.0% | 1/51 |
| Pectus excavatum | 2.0% | 1/51 |
| Postaxial hand polydactyly | 2.0% | 1/51 |
| Preaxial hand polydactyly | 2.0% | 1/51 |
| Progressive flexion contractures | 2.0% | 1/51 |
| Recurrent fractures | 2.0% | 1/51 |
| Short hallux | 2.0% | 1/51 |
| Short stature | 2.0% | 1/51 |
| Short distal phalanx of finger | 2.0% | 1/51 |
| Short ribs | 2.0% | 1/51 |
| Short metacarpal | 2.0% | 1/51 |
| Short phalanx of finger | 2.0% | 1/51 |
| Short finger | 2.0% | 1/51 |
| Single transverse palmar crease | 2.0% | 1/51 |
| Talipes equinovarus | 2.0% | 1/51 |
| Thoracolumbar scoliosis | 2.0% | 1/51 |
| Wide anterior fontanel | 2.0% | 1/51 |
| 4-5 finger cutaneous syndactyly | 2.0% | 1/51 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 44.7% | 21/47 |
| Cafe-au-lait spot | 8.5% | 4/47 |
| Supernumerary nipple | 8.5% | 4/47 |
| Aplastic/hypoplastic toenail | 4.3% | 2/47 |
| Aplasia/Hypoplasia of the nails | 4.3% | 2/47 |
| Inverted nipples | 4.3% | 2/47 |
| Nail dysplasia | 4.3% | 2/47 |
| Small nail | 4.3% | 2/47 |
| Sparse hair | 4.3% | 2/47 |
| Abnormal number of hair whorls | 2.1% | 1/47 |
| Bruising susceptibility | 2.1% | 1/47 |
| Clinodactyly | 2.1% | 1/47 |
| Frontal upsweep of hair | 2.1% | 1/47 |
| Hyperconvex fingernails | 2.1% | 1/47 |
| Hypertrichosis | 2.1% | 1/47 |
| Hypoplastic fifth fingernail | 2.1% | 1/47 |
| Hypoplastic toenails | 2.1% | 1/47 |
| Hypoplastic fifth toenail | 2.1% | 1/47 |
| Low anterior hairline | 2.1% | 1/47 |
| Low posterior hairline | 2.1% | 1/47 |
| Soft skin | 2.1% | 1/47 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 18.8% | 3/16 |
| Cholestasis | 6.3% | 1/16 |
| Diabetes mellitus | 6.3% | 1/16 |
| Hypoglycemia | 6.3% | 1/16 |
| Hypothyroidism | 6.3% | 1/16 |
| Abnormality of the immune system | 26.3% | 5/19 |
| Otitis media | 10.5% | 2/19 |
| Recurrent otitis media | 10.5% | 2/19 |
| Recurrent infections | 5.3% | 1/19 |