THOC6
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 33.3% | 6/18 |
| Female | 66.7% | 12/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 0% | 0/18 |
| General | ||
| Birth Length abnormalities | 16.7% | 3/18 |
| < P3 : Birth length less than 3rd percentile | 16.7% | 3/18 |
| Birth Weight abnormalities | 38.9% | 7/18 |
| < P3 : Small for gestational age | 38.9% | 7/18 |
| Birth Head circumference abnormalities | 33.3% | 6/18 |
| < P3 : Congenital microcephaly | 33.3% | 6/18 |
| Current Height abnormalities | 38.9% | 7/18 |
| < P3 : Short stature | 38.9% | 7/18 |
| Current Weight abnormalities | 38.9% | 7/18 |
| < P3 : Decreased body weight | 38.9% | 7/18 |
| Current Head circumference abnormalities | 88.9% | 16/18 |
| < P3 : Microcephaly | 88.9% | 16/18 |
| Neurology | ||
| Neurological abnormalities | 33.3% | 6/18 |
| Seizures | 11.1% | 2/18 |
| Abnormality of movement | 5.6% | 1/18 |
| Broad-based gait | 5.6% | 1/18 |
| Muscular hypotonia | 5.6% | 1/18 |
| Neonatal hypotonia | 5.6% | 1/18 |
| Optic disc hypoplasia | 5.6% | 1/18 |
| Unsteady gait | 5.6% | 1/18 |
| Behavioral problems | 44.4% | 8/18 |
| Absent speech | 22.2% | 4/18 |
| Stereotypic behavior | 11.1% | 2/18 |
| Autistic behavior | 5.6% | 1/18 |
| Autism | 5.6% | 1/18 |
| Developmental regression | 5.6% | 1/18 |
| Obsessive-compulsive behavior | 5.6% | 1/18 |
| Sleep disturbance | 5.6% | 1/18 |
| Brain abnormality | 63.6% | 7/11 |
| Ventriculomegaly | 27.3% | 3/11 |
| Dysplastic corpus callosum | 18.2% | 2/11 |
| Abnormality of the cerebellar vermis | 9.1% | 1/11 |
| Abnormality of the septum pellucidum | 9.1% | 1/11 |
| Abnormal cortical gyration | 9.1% | 1/11 |
| Aqueductal stenosis | 9.1% | 1/11 |
| Cerebellar hypoplasia | 9.1% | 1/11 |
| Choroid plexus cyst | 9.1% | 1/11 |
| Hydrocephalus | 9.1% | 1/11 |
| Hypoplasia of the pons | 9.1% | 1/11 |
| Hypoplasia of the corpus callosum | 9.1% | 1/11 |
| Limbic malformations | 9.1% | 1/11 |
| Short corpus callosum | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 27.8% | 5/18 |
| Cupped ear | 5.6% | 1/18 |
| Large earlobe | 5.6% | 1/18 |
| Low-set ears | 5.6% | 1/18 |
| Posteriorly rotated ears | 5.6% | 1/18 |
| Prominent antihelix | 5.6% | 1/18 |
| Protruding ear | 5.6% | 1/18 |
| Uplifted earlobe | 5.6% | 1/18 |
| Abnormality of the eye | 88.9% | 16/18 |
| Upslanted palpebral fissure | 66.7% | 12/18 |
| Short palpebral fissure | 61.1% | 11/18 |
| Epicanthus | 55.6% | 10/18 |
| Deeply set eye | 50.0% | 9/18 |
| Microcornea | 5.6% | 1/18 |
| Ptosis | 5.6% | 1/18 |
| Small palpebral fissure | 5.6% | 1/18 |
| Abnormality of the nose | 94.4% | 17/18 |
| Long nose | 66.7% | 12/18 |
| Low hanging columella | 61.1% | 11/18 |
| Wide nasal bridge | 11.1% | 2/18 |
| Abnormal nasal morphology | 5.6% | 1/18 |
| Anteverted nares | 5.6% | 1/18 |
| Bifid nasal tip | 5.6% | 1/18 |
| Choanal atresia | 5.6% | 1/18 |
| Choanal stenosis | 5.6% | 1/18 |
| Prominent nasal bridge | 5.6% | 1/18 |
| Short columella | 5.6% | 1/18 |
| Wide nasal base | 5.6% | 1/18 |
| Abnormality of the mouth | 100.0% | 18/18 |
| Carious teeth | 38.9% | 7/18 |
| Dental malocclusion | 27.8% | 5/18 |
| Retrognathia | 22.2% | 4/18 |
| Thick upper lip vermilion | 22.2% | 4/18 |
| Thick lower lip vermilion | 22.2% | 4/18 |
| Cleft palate | 16.7% | 3/18 |
| Dental crowding | 11.1% | 2/18 |
| Micrognathia | 11.1% | 2/18 |
| Abnormality of lower lip | 5.6% | 1/18 |
| Abnormality of the uvula | 5.6% | 1/18 |
| Ankyloglossia | 5.6% | 1/18 |
| Bifid uvula | 5.6% | 1/18 |
| Downturned corners of mouth | 5.6% | 1/18 |
| Exaggerated cupid's bow | 5.6% | 1/18 |
| Hypoplasia of the maxilla | 5.6% | 1/18 |
| Increased number of teeth | 5.6% | 1/18 |
| Irregular dentition | 5.6% | 1/18 |
| Microretrognathia | 5.6% | 1/18 |
| Oral cleft | 5.6% | 1/18 |
| Submucous cleft lip | 5.6% | 1/18 |
| Tented upper lip vermilion | 5.6% | 1/18 |
| Thick vermilion border | 5.6% | 1/18 |
| Thin vermilion border | 5.6% | 1/18 |
| Thin upper lip vermilion | 5.6% | 1/18 |
| Thin lower lip vermilion | 5.6% | 1/18 |
| Wide mouth | 5.6% | 1/18 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.7% | 3/18 |
| Hearing impairment | 5.6% | 1/18 |
| Mild conductive hearing impairment | 5.6% | 1/18 |
| Sensorineural hearing impairment | 5.6% | 1/18 |
| Abnormal vision | 35.3% | 6/17 |
| Strabismus | 17.6% | 3/17 |
| Myopia | 11.8% | 2/17 |
| Exotropia | 5.9% | 1/17 |
| Hypermetropia | 5.9% | 1/17 |
| Nystagmus | 5.9% | 1/17 |
| Heart | ||
| Abnormality of the heart | 44.4% | 8/18 |
| Ventricular septal defect | 22.2% | 4/18 |
| Patent ductus arteriosus | 16.7% | 3/18 |
| Atria septal defect | 11.1% | 2/18 |
| Abnormality of the mitral valve | 5.6% | 1/18 |
| Left ventricular hypertrophy | 5.6% | 1/18 |
| Patent foramen ovale | 5.6% | 1/18 |
| Pulmonic stenosis | 5.6% | 1/18 |
| Pulmonary hypertension | 5.6% | 1/18 |
| Sinus tachycardia | 5.6% | 1/18 |
| Pulmonary | ||
| Abnormality of the lungs | 5.6% | 1/18 |
| Chronic lung disease | 5.6% | 1/18 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 44.4% | 8/18 |
| Anal atresia | 11.1% | 2/18 |
| Gastroesophageal reflux | 11.1% | 2/18 |
| Vomiting | 11.1% | 2/18 |
| Aganglionic megacolon | 5.6% | 1/18 |
| Anteriorly placed anus | 5.6% | 1/18 |
| Constipation | 5.6% | 1/18 |
| Urogenital | ||
| Abnormality of the urogenital system | 66.7% | 12/18 |
| Cryptorchidism | 11.1% | 2/18 |
| Horseshoe kidney | 11.1% | 2/18 |
| Renal agenesis | 11.1% | 2/18 |
| Anteriorly placed anus | 5.6% | 1/18 |
| Duplicated collecting system | 5.6% | 1/18 |
| Ectopic kidney | 5.6% | 1/18 |
| Endometriosis | 5.6% | 1/18 |
| Hypoplasia of the uterus | 5.6% | 1/18 |
| Hypospadias | 5.6% | 1/18 |
| Micropenis | 5.6% | 1/18 |
| Premature ovarian failure | 5.6% | 1/18 |
| Rectoperineal fistula | 5.6% | 1/18 |
| Renal dysplasia | 5.6% | 1/18 |
| Unilateral renal agenesis | 5.6% | 1/18 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 9/18 |
| Camptodactyly | 11.1% | 2/18 |
| Overlapping toe | 11.1% | 2/18 |
| Abnormality of the calvaria | 5.6% | 1/18 |
| Cervical segmentation defect | 5.6% | 1/18 |
| Clinodactyly of the 5th finger | 5.6% | 1/18 |
| Cubitus valgus | 5.6% | 1/18 |
| Delayed skeletal maturation | 5.6% | 1/18 |
| Digital flexor tenosynovitis | 5.6% | 1/18 |
| Flexion contracture | 5.6% | 1/18 |
| Genu valgum | 5.6% | 1/18 |
| Hip dislocation | 5.6% | 1/18 |
| Hyperlordosis | 5.6% | 1/18 |
| Limited neck range of motion | 5.6% | 1/18 |
| Multiple epiphyseal dysplasia | 5.6% | 1/18 |
| Osteoporosis | 5.6% | 1/18 |
| Pes planus | 5.6% | 1/18 |
| Scoliosis | 5.6% | 1/18 |
| Short foot | 5.6% | 1/18 |
| Small hand | 5.6% | 1/18 |
| Tapered finger | 5.6% | 1/18 |
| Toe clinodactyly | 5.6% | 1/18 |
| Valgus foot deformity | 5.6% | 1/18 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 61.1% | 11/18 |
| High anterior hairline | 27.8% | 5/18 |
| Prominent fingertip pads | 11.1% | 2/18 |
| Sparse eyebrow | 11.1% | 2/18 |
| Atopic dermatitis | 5.6% | 1/18 |
| Highly arched eyebrow | 5.6% | 1/18 |
| Hypoplastic toenails | 5.6% | 1/18 |
| Urticaria | 5.6% | 1/18 |
| 2-3 toe cutaneous syndactyly | 5.6% | 1/18 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 11.1% | 2/18 |
| Hypergonadotropic hypogonadism | 5.6% | 1/18 |
| Hypothyroidism | 5.6% | 1/18 |
| Abnormality of the immune system | 27.8% | 5/18 |
| Recurrent urinary tract infections | 16.7% | 3/18 |
| Recurrent upper respiratory tract infections | 5.6% | 1/18 |
| Recurrent lower respiratory tract infections | 5.6% | 1/18 |