WAC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 46.8% | 22/47 |
| Female | 53.2% | 25/47 |
| Indifferent | 0% | 0/47 |
| Unknown | 0% | 0/47 |
| General | ||
| Birth Length abnormalities | 4.3% | 2/46 |
| > P98 : Birth length greater than 97th percentile | 2.2% | 1/46 |
| < P3 : Birth length less than 3rd percentile | 2.2% | 1/46 |
| Birth Weight abnormalities | 8.5% | 4/47 |
| > P98 : Large for gestational age | 4.3% | 2/47 |
| < P3 : Small for gestational age | 4.3% | 2/47 |
| Birth Head circumference abnormalities | 6.4% | 3/47 |
| < P3 : Congenital microcephaly | 6.4% | 3/47 |
| Current Height abnormalities | 19.1% | 9/47 |
| < P3 : Short stature | 17.0% | 8/47 |
| > P98 : Tall stature | 2.1% | 1/47 |
| Current Weight abnormalities | 14.9% | 7/47 |
| > P98 : Increased body weight | 12.8% | 6/47 |
| < P3 : Decreased body weight | 2.1% | 1/47 |
| Current Head circumference abnormalities | 19.1% | 9/47 |
| > P98 : Macrocephaly | 10.6% | 5/47 |
| < P3 : Microcephaly | 8.5% | 4/47 |
| Neurology | ||
| Neurological abnormalities | 84.8% | 39/46 |
| Muscular hypotonia | 37.0% | 17/46 |
| Oral motor hypotonia | 15.2% | 7/46 |
| EEG abnormality | 10.9% | 5/46 |
| Neurodevelopmental delay | 8.7% | 4/46 |
| Seizures | 8.7% | 4/46 |
| Focal seizures | 6.5% | 3/46 |
| Generalized hypotonia | 6.5% | 3/46 |
| Generalized tonic-clonic seizures | 4.3% | 2/46 |
| Hyporeflexia | 4.3% | 2/46 |
| Neonatal hypotonia | 4.3% | 2/46 |
| Speech apraxia | 4.3% | 2/46 |
| Speech articulation difficulties | 4.3% | 2/46 |
| Abnormality of coordination | 2.2% | 1/46 |
| Apraxia | 2.2% | 1/46 |
| Cataplexy | 2.2% | 1/46 |
| Clumsiness | 2.2% | 1/46 |
| Dysarthria | 2.2% | 1/46 |
| Dysphagia | 2.2% | 1/46 |
| Expressive language delay | 2.2% | 1/46 |
| Focal seizures with impairment of consciousness or awareness | 2.2% | 1/46 |
| Focal clonic seizures | 2.2% | 1/46 |
| Gait ataxia | 2.2% | 1/46 |
| Muscular hypotonia of the trunk | 2.2% | 1/46 |
| Neurological speech impairment | 2.2% | 1/46 |
| Poor speech | 2.2% | 1/46 |
| Behavioral problems | 86.7% | 39/45 |
| Anxiety | 33.3% | 15/45 |
| Sleep disturbance | 28.9% | 13/45 |
| Attention deficit hyperactivity disorder | 26.7% | 12/45 |
| Autism | 20.0% | 9/45 |
| Aggressive behavior | 15.6% | 7/45 |
| Autistic behavior | 8.9% | 4/45 |
| Hyperactivity | 8.9% | 4/45 |
| Agitation | 6.7% | 3/45 |
| Stereotypic behavior | 6.7% | 3/45 |
| Behavioral abnormality | 4.4% | 2/45 |
| Impaired social interactions | 4.4% | 2/45 |
| Obsessive-compulsive behavior | 4.4% | 2/45 |
| Self-injurious behavior | 4.4% | 2/45 |
| Abnormal eating behavior | 2.2% | 1/45 |
| Abnormal emotion/affect behavior | 2.2% | 1/45 |
| Abnormal aggressive, impulsive or violent behavior | 2.2% | 1/45 |
| Absent speech | 2.2% | 1/45 |
| Hyperkinesis | 2.2% | 1/45 |
| Hyperacusis | 2.2% | 1/45 |
| Irritability | 2.2% | 1/45 |
| Poor eye contact | 2.2% | 1/45 |
| Repetitive compulsive behavior | 2.2% | 1/45 |
| Restrictive behavior | 2.2% | 1/45 |
| Short attention span | 2.2% | 1/45 |
| Brain abnormality | 31.4% | 11/35 |
| Enlarged cisterna magna | 5.7% | 2/35 |
| Ventriculomegaly | 5.7% | 2/35 |
| Abnormality of brain morphology | 2.9% | 1/35 |
| Abnormality of nervous system morphology | 2.9% | 1/35 |
| Abnormality of the periventricular white matter | 2.9% | 1/35 |
| Arachnoid cyst | 2.9% | 1/35 |
| Arnold-Chiari type I malformation | 2.9% | 1/35 |
| Hypoplasia of the corpus callosum | 2.9% | 1/35 |
| Morphological abnormality of the central nervous system | 2.9% | 1/35 |
| Pineal cyst | 2.9% | 1/35 |
| Widened subarachnoid space | 2.9% | 1/35 |
| Facial abnormalities | ||
| Abnormality of the ear | 44.2% | 19/43 |
| Posteriorly rotated ears | 14.0% | 6/43 |
| Low-set ears | 9.3% | 4/43 |
| Prominent antihelix | 9.3% | 4/43 |
| Preauricular pit | 7.0% | 3/43 |
| Abnormality of the outer ear | 4.7% | 2/43 |
| Abnormality of the helix | 4.7% | 2/43 |
| Macrotia | 4.7% | 2/43 |
| Prominent ear helix | 4.7% | 2/43 |
| Posterior helix pit | 2.3% | 1/43 |
| Preauricular skin tag | 2.3% | 1/43 |
| Stenosis of the external auditory canal | 2.3% | 1/43 |
| Abnormality of the eye | 86.7% | 39/45 |
| Deeply set eye | 46.7% | 21/45 |
| Downslanted palpebral fissures | 22.2% | 10/45 |
| Long palpebral fissure | 20.0% | 9/45 |
| Hypertelorism | 17.8% | 8/45 |
| Strabismus | 17.8% | 8/45 |
| Epicanthus | 15.6% | 7/45 |
| Ptosis | 8.9% | 4/45 |
| Long eyelashes | 6.7% | 3/45 |
| Bilateral ptosis | 4.4% | 2/45 |
| Short palpebral fissure | 4.4% | 2/45 |
| Abnormality of the palpebral fissures | 2.2% | 1/45 |
| Epicanthus inversus | 2.2% | 1/45 |
| Horizontal eyebrow | 2.2% | 1/45 |
| Lacrimal duct stenosis | 2.2% | 1/45 |
| Orbital cyst | 2.2% | 1/45 |
| Telecanthus | 2.2% | 1/45 |
| Abnormality of the nose | 67.4% | 29/43 |
| Bulbous nose | 41.9% | 18/43 |
| Abnormality of the nasal bridge | 25.6% | 11/43 |
| Anteverted nares | 14.0% | 6/43 |
| Depressed nasal bridge | 11.6% | 5/43 |
| Short nose | 7.0% | 3/43 |
| Wide nasal bridge | 7.0% | 3/43 |
| Flared nostrils | 2.3% | 1/43 |
| Low hanging columella | 2.3% | 1/43 |
| Short philtrum | 2.3% | 1/43 |
| Abnormality of the mouth | 67.4% | 29/43 |
| Wide mouth | 27.9% | 12/43 |
| Thin upper lip vermilion | 20.9% | 9/43 |
| High palate | 9.3% | 4/43 |
| Dental crowding | 7.0% | 3/43 |
| Macrodontia of permanent maxillary central incisor | 7.0% | 3/43 |
| Abnormality of the teeth | 4.7% | 2/43 |
| Absent cupid's bow | 4.7% | 2/43 |
| Diastema | 4.7% | 2/43 |
| Downturned corners of mouth | 4.7% | 2/43 |
| Long philtrum | 4.7% | 2/43 |
| Thick vermilion border | 4.7% | 2/43 |
| Abnormality of the gingiva | 2.3% | 1/43 |
| Ankyloglossia | 2.3% | 1/43 |
| Bifid tongue | 2.3% | 1/43 |
| Cleft palate | 2.3% | 1/43 |
| Everted upper lip vermilion | 2.3% | 1/43 |
| Exaggerated cupid's bow | 2.3% | 1/43 |
| Macroglossia | 2.3% | 1/43 |
| Macrodontia | 2.3% | 1/43 |
| Mandibular prognathia | 2.3% | 1/43 |
| Misalignment of teeth | 2.3% | 1/43 |
| Open mouth | 2.3% | 1/43 |
| Protruding tongue | 2.3% | 1/43 |
| Smooth philtrum | 2.3% | 1/43 |
| Thick lower lip vermilion | 2.3% | 1/43 |
| Thick upper lip vermilion | 2.3% | 1/43 |
| Visual and hearing impairments | ||
| Abnormal hearing | 14.6% | 6/41 |
| Bilateral sensorineural hearing impairment | 2.4% | 1/41 |
| Conductive hearing impairment | 2.4% | 1/41 |
| Hearing abnormality | 2.4% | 1/41 |
| Hyperacusis | 2.4% | 1/41 |
| Sensorineural hearing impairment | 2.4% | 1/41 |
| Unilateral conductive hearing impairment | 2.4% | 1/41 |
| Abnormal vision | 50.0% | 20/40 |
| Strabismus | 30.0% | 12/40 |
| Astigmatism | 17.5% | 7/40 |
| Myopia | 12.5% | 5/40 |
| Hypermetropia | 5.0% | 2/40 |
| Reduced visual acuity | 5.0% | 2/40 |
| Amblyopia | 2.5% | 1/40 |
| Cortical visual impairment | 2.5% | 1/40 |
| Esotropia | 2.5% | 1/40 |
| Hyperopic astigmatism | 2.5% | 1/40 |
| Heart | ||
| Abnormality of the heart | 15.0% | 6/40 |
| Atria septal defect | 5.0% | 2/40 |
| Ventricular septal defect | 5.0% | 2/40 |
| Abnormality of cardiac ventricle | 2.5% | 1/40 |
| Coarctation of aorta | 2.5% | 1/40 |
| Heart murmur | 2.5% | 1/40 |
| Patent foramen ovale | 2.5% | 1/40 |
| Patent ductus arteriosus | 2.5% | 1/40 |
| Secundum atrial septal defect | 2.5% | 1/40 |
| Supraventricular tachycardia | 2.5% | 1/40 |
| Tricuspid valve prolapse | 2.5% | 1/40 |
| Tricuspid regurgitation | 2.5% | 1/40 |
| Pulmonary | ||
| Abnormality of the lungs | 11.8% | 2/17 |
| Asthma | 5.9% | 1/17 |
| Tachypnea | 5.9% | 1/17 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 58.1% | 25/43 |
| Constipation | 37.2% | 16/43 |
| Feeding difficulties | 25.6% | 11/43 |
| Gastroesophageal reflux | 7.0% | 3/43 |
| Chronic constipation | 4.7% | 2/43 |
| Abdominal symptom | 2.3% | 1/43 |
| Abnormality of the gallbladder | 2.3% | 1/43 |
| Achalasia | 2.3% | 1/43 |
| Bowel incontinence | 2.3% | 1/43 |
| Dysphagia | 2.3% | 1/43 |
| Gastrointestinal dysmotility | 2.3% | 1/43 |
| Hiatus hernia | 2.3% | 1/43 |
| Urogenital | ||
| Abnormality of the urogenital system | 20.0% | 8/40 |
| Pelvic kidney | 5.0% | 2/40 |
| Abnormality of the kidney | 2.5% | 1/40 |
| Enuresis nocturna | 2.5% | 1/40 |
| Hydronephrosis | 2.5% | 1/40 |
| Oligomenorrhea | 2.5% | 1/40 |
| Phimosis | 2.5% | 1/40 |
| Secondary amenorrhea | 2.5% | 1/40 |
| Ureter duplex | 2.5% | 1/40 |
| Skeleton | ||
| Skeletal abnormalities | 73.8% | 31/42 |
| Pes planus | 16.7% | 7/42 |
| Short digit | 16.7% | 7/42 |
| Tapered finger | 11.9% | 5/42 |
| Valgus foot deformity | 11.9% | 5/42 |
| Brachydactyly syndrome | 9.5% | 4/42 |
| Brachycephaly | 7.1% | 3/42 |
| Short foot | 7.1% | 3/42 |
| Short toe | 7.1% | 3/42 |
| Small hand | 7.1% | 3/42 |
| Wide anterior fontanel | 7.1% | 3/42 |
| Kyphosis | 4.8% | 2/42 |
| Limitation of movement at ankles | 4.8% | 2/42 |
| Pectus excavatum | 4.8% | 2/42 |
| Sandal gap | 4.8% | 2/42 |
| Abnormality of the clavicle | 2.4% | 1/42 |
| Abnormal hand morphology | 2.4% | 1/42 |
| Abnormality of the foot | 2.4% | 1/42 |
| Aplasia/Hypoplasia of fingers | 2.4% | 1/42 |
| Broad finger | 2.4% | 1/42 |
| Broad toe | 2.4% | 1/42 |
| Broad hallux | 2.4% | 1/42 |
| Broad thumb | 2.4% | 1/42 |
| Clinodactyly of the 3rd finger | 2.4% | 1/42 |
| Clinodactyly of the 5th finger | 2.4% | 1/42 |
| Cutaneous finger syndactyly | 2.4% | 1/42 |
| Delayed cranial suture closure | 2.4% | 1/42 |
| Ectopic accessory finger-like appendage | 2.4% | 1/42 |
| Finger clinodactyly | 2.4% | 1/42 |
| Genu valgum | 2.4% | 1/42 |
| Hallux valgus | 2.4% | 1/42 |
| Hip dysplasia | 2.4% | 1/42 |
| Lower limb asymmetry | 2.4% | 1/42 |
| Patellar subluxation | 2.4% | 1/42 |
| Pectus carinatum | 2.4% | 1/42 |
| Plagiocephaly | 2.4% | 1/42 |
| Short finger | 2.4% | 1/42 |
| Short 5th metacarpal | 2.4% | 1/42 |
| Short neck | 2.4% | 1/42 |
| Syndactyly | 2.4% | 1/42 |
| Talipes equinovarus | 2.4% | 1/42 |
| Type D brachydactyly | 2.4% | 1/42 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 65.9% | 27/41 |
| Synophrys | 19.5% | 8/41 |
| Hirsutism | 17.1% | 7/41 |
| Hypertrichosis | 14.6% | 6/41 |
| Low posterior hairline | 12.2% | 5/41 |
| Long eyelashes | 9.8% | 4/41 |
| Thick eyebrow | 7.3% | 3/41 |
| Broad eyebrow | 4.9% | 2/41 |
| Hyperkeratosis pilaris | 4.9% | 2/41 |
| Acanthosis nigricans | 2.4% | 1/41 |
| Acne | 2.4% | 1/41 |
| Aplasia/Hypoplasia of the nails | 2.4% | 1/41 |
| Congenital onychodystrophy | 2.4% | 1/41 |
| Eczema | 2.4% | 1/41 |
| Generalized hirsutism | 2.4% | 1/41 |
| Hyperpigmentation of the skin | 2.4% | 1/41 |
| Low anterior hairline | 2.4% | 1/41 |
| Prominent fingertip pads | 2.4% | 1/41 |
| Redundant neck skin | 2.4% | 1/41 |
| Short nail | 2.4% | 1/41 |
| Sparse hair | 2.4% | 1/41 |
| Supernumerary nipple | 2.4% | 1/41 |
| Wide intermamillary distance | 2.4% | 1/41 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 14.6% | 6/41 |
| Growth hormone deficiency | 4.9% | 2/41 |
| Hirsutism | 4.9% | 2/41 |
| Congenital adrenal hyperplasia | 2.4% | 1/41 |
| Delayed puberty | 2.4% | 1/41 |
| Growth delay | 2.4% | 1/41 |
| Hyperthyroidism | 2.4% | 1/41 |
| Abnormality of the metabolic system | 10.0% | 4/40 |
| Abnormality of mitochondrial metabolism | 2.5% | 1/40 |
| Hypoglycemia | 2.5% | 1/40 |
| Mildly elevated creatine phosphokinase | 2.5% | 1/40 |
| Mucopolysacchariduria | 2.5% | 1/40 |
| Abnormality of the immune system | 7.7% | 3/39 |
| IgG deficiency | 2.6% | 1/39 |
| Leukopenia | 2.6% | 1/39 |
| Panhypogammaglobulinemia | 2.6% | 1/39 |
| Thrombocytopenia | 2.6% | 1/39 |