WAC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 47.5% | 19/40 |
| Female | 52.5% | 21/40 |
| Indifferent | 0% | 0/40 |
| Unknown | 0% | 0/40 |
| General | ||
| Birth Length abnormalities | 5.1% | 2/39 |
| > P98 : Birth length greater than 97th percentile | 2.6% | 1/39 |
| < P3 : Birth length less than 3rd percentile | 2.6% | 1/39 |
| Birth Weight abnormalities | 10.0% | 4/40 |
| > P98 : Large for gestational age | 5.0% | 2/40 |
| < P3 : Small for gestational age | 5.0% | 2/40 |
| Birth Head circumference abnormalities | 5.0% | 2/40 |
| < P3 : Congenital microcephaly | 5.0% | 2/40 |
| Current Height abnormalities | 22.5% | 9/40 |
| < P3 : Short stature | 20.0% | 8/40 |
| > P98 : Tall stature | 2.5% | 1/40 |
| Current Weight abnormalities | 17.5% | 7/40 |
| > P98 : Increased body weight | 15.0% | 6/40 |
| < P3 : Decreased body weight | 2.5% | 1/40 |
| Current Head circumference abnormalities | 20.0% | 8/40 |
| > P98 : Macrocephaly | 12.5% | 5/40 |
| < P3 : Microcephaly | 7.5% | 3/40 |
| Neurology | ||
| Neurological abnormalities | 82.1% | 32/39 |
| Muscular hypotonia | 38.5% | 15/39 |
| Oral motor hypotonia | 17.9% | 7/39 |
| Neurodevelopmental delay | 10.3% | 4/39 |
| Seizures | 10.3% | 4/39 |
| Generalized hypotonia | 7.7% | 3/39 |
| EEG abnormality | 5.1% | 2/39 |
| Neonatal hypotonia | 5.1% | 2/39 |
| Abnormality of coordination | 2.6% | 1/39 |
| Cataplexy | 2.6% | 1/39 |
| Clumsiness | 2.6% | 1/39 |
| Dysarthria | 2.6% | 1/39 |
| Expressive language delay | 2.6% | 1/39 |
| Focal seizures | 2.6% | 1/39 |
| Hyporeflexia | 2.6% | 1/39 |
| Muscular hypotonia of the trunk | 2.6% | 1/39 |
| Speech articulation difficulties | 2.6% | 1/39 |
| Behavioral problems | 86.8% | 33/38 |
| Anxiety | 31.6% | 12/38 |
| Attention deficit hyperactivity disorder | 28.9% | 11/38 |
| Sleep disturbance | 28.9% | 11/38 |
| Autism | 18.4% | 7/38 |
| Aggressive behavior | 15.8% | 6/38 |
| Hyperactivity | 10.5% | 4/38 |
| Agitation | 7.9% | 3/38 |
| Autistic behavior | 5.3% | 2/38 |
| Impaired social interactions | 5.3% | 2/38 |
| Self-injurious behavior | 5.3% | 2/38 |
| Abnormal emotion/affect behavior | 2.6% | 1/38 |
| Abnormal aggressive, impulsive or violent behavior | 2.6% | 1/38 |
| Hyperkinesis | 2.6% | 1/38 |
| Irritability | 2.6% | 1/38 |
| Obsessive-compulsive behavior | 2.6% | 1/38 |
| Poor eye contact | 2.6% | 1/38 |
| Repetitive compulsive behavior | 2.6% | 1/38 |
| Restrictive behavior | 2.6% | 1/38 |
| Stereotypic behavior | 2.6% | 1/38 |
| Brain abnormality | 31.0% | 9/29 |
| Enlarged cisterna magna | 6.9% | 2/29 |
| Ventriculomegaly | 6.9% | 2/29 |
| Abnormality of brain morphology | 3.4% | 1/29 |
| Abnormality of nervous system morphology | 3.4% | 1/29 |
| Abnormality of the periventricular white matter | 3.4% | 1/29 |
| Arachnoid cyst | 3.4% | 1/29 |
| Hypoplasia of the corpus callosum | 3.4% | 1/29 |
| Morphological abnormality of the central nervous system | 3.4% | 1/29 |
| Widened subarachnoid space | 3.4% | 1/29 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 18/36 |
| Posteriorly rotated ears | 13.9% | 5/36 |
| Low-set ears | 11.1% | 4/36 |
| Prominent antihelix | 11.1% | 4/36 |
| Preauricular pit | 8.3% | 3/36 |
| Abnormality of the helix | 5.6% | 2/36 |
| Abnormality of the outer ear | 5.6% | 2/36 |
| Macrotia | 5.6% | 2/36 |
| Prominent ear helix | 5.6% | 2/36 |
| Posterior helix pit | 2.8% | 1/36 |
| Preauricular skin tag | 2.8% | 1/36 |
| Stenosis of the external auditory canal | 2.8% | 1/36 |
| Abnormality of the eye | 92.1% | 35/38 |
| Deeply set eye | 50.0% | 19/38 |
| Downslanted palpebral fissures | 23.7% | 9/38 |
| Hypertelorism | 21.1% | 8/38 |
| Long palpebral fissure | 21.1% | 8/38 |
| Strabismus | 21.1% | 8/38 |
| Epicanthus | 13.2% | 5/38 |
| Ptosis | 10.5% | 4/38 |
| Long eyelashes | 7.9% | 3/38 |
| Bilateral ptosis | 5.3% | 2/38 |
| Abnormality of the palpebral fissures | 2.6% | 1/38 |
| Epicanthus inversus | 2.6% | 1/38 |
| Horizontal eyebrow | 2.6% | 1/38 |
| Lacrimal duct stenosis | 2.6% | 1/38 |
| Orbital cyst | 2.6% | 1/38 |
| Telecanthus | 2.6% | 1/38 |
| Abnormality of the nose | 61.1% | 22/36 |
| Bulbous nose | 41.7% | 15/36 |
| Abnormality of the nasal bridge | 30.6% | 11/36 |
| Depressed nasal bridge | 11.1% | 4/36 |
| Anteverted nares | 8.3% | 3/36 |
| Flared nostrils | 2.8% | 1/36 |
| Low hanging columella | 2.8% | 1/36 |
| Short philtrum | 2.8% | 1/36 |
| Wide nasal bridge | 2.8% | 1/36 |
| Abnormality of the mouth | 66.7% | 24/36 |
| Wide mouth | 30.6% | 11/36 |
| Thin upper lip vermilion | 22.2% | 8/36 |
| High palate | 11.1% | 4/36 |
| Abnormality of the teeth | 5.6% | 2/36 |
| Absent cupid's bow | 5.6% | 2/36 |
| Dental crowding | 5.6% | 2/36 |
| Diastema | 5.6% | 2/36 |
| Downturned corners of mouth | 5.6% | 2/36 |
| Long philtrum | 5.6% | 2/36 |
| Macrodontia of permanent maxillary central incisor | 5.6% | 2/36 |
| Thick vermilion border | 5.6% | 2/36 |
| Abnormality of the gingiva | 2.8% | 1/36 |
| Ankyloglossia | 2.8% | 1/36 |
| Bifid tongue | 2.8% | 1/36 |
| Cleft palate | 2.8% | 1/36 |
| Everted upper lip vermilion | 2.8% | 1/36 |
| Macrodontia | 2.8% | 1/36 |
| Macroglossia | 2.8% | 1/36 |
| Misalignment of teeth | 2.8% | 1/36 |
| Open mouth | 2.8% | 1/36 |
| Protruding tongue | 2.8% | 1/36 |
| Smooth philtrum | 2.8% | 1/36 |
| Thick lower lip vermilion | 2.8% | 1/36 |
| Visual and hearing impairments | ||
| Abnormal hearing | 14.7% | 5/34 |
| Bilateral sensorineural hearing impairment | 2.9% | 1/34 |
| Hearing abnormality | 2.9% | 1/34 |
| Hyperacusis | 2.9% | 1/34 |
| Sensorineural hearing impairment | 2.9% | 1/34 |
| Unilateral conductive hearing impairment | 2.9% | 1/34 |
| Abnormal vision | 51.5% | 17/33 |
| Strabismus | 33.3% | 11/33 |
| Astigmatism | 15.2% | 5/33 |
| Myopia | 15.2% | 5/33 |
| Hypermetropia | 6.1% | 2/33 |
| Reduced visual acuity | 6.1% | 2/33 |
| Amblyopia | 3.0% | 1/33 |
| Cortical visual impairment | 3.0% | 1/33 |
| Hyperopic astigmatism | 3.0% | 1/33 |
| Heart | ||
| Abnormality of the heart | 15.2% | 5/33 |
| Atria septal defect | 6.1% | 2/33 |
| Ventricular septal defect | 6.1% | 2/33 |
| Abnormality of cardiac ventricle | 3.0% | 1/33 |
| Coarctation of aorta | 3.0% | 1/33 |
| Heart murmur | 3.0% | 1/33 |
| Patent foramen ovale | 3.0% | 1/33 |
| Secundum atrial septal defect | 3.0% | 1/33 |
| Supraventricular tachycardia | 3.0% | 1/33 |
| Tricuspid regurgitation | 3.0% | 1/33 |
| Tricuspid valve prolapse | 3.0% | 1/33 |
| Pulmonary | ||
| Abnormality of the lungs | 20.0% | 2/10 |
| Asthma | 10.0% | 1/10 |
| Tachypnea | 10.0% | 1/10 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 63.9% | 23/36 |
| Constipation | 38.9% | 14/36 |
| Feeding difficulties | 30.6% | 11/36 |
| Gastroesophageal reflux | 8.3% | 3/36 |
| Chronic constipation | 5.6% | 2/36 |
| Abdominal symptom | 2.8% | 1/36 |
| Achalasia | 2.8% | 1/36 |
| Bowel incontinence | 2.8% | 1/36 |
| Dysphagia | 2.8% | 1/36 |
| Gastrointestinal dysmotility | 2.8% | 1/36 |
| Hiatus hernia | 2.8% | 1/36 |
| Urogenital | ||
| Abnormality of the urogenital system | 21.2% | 7/33 |
| Abnormality of the kidney | 3.0% | 1/33 |
| Enuresis nocturna | 3.0% | 1/33 |
| Hydronephrosis | 3.0% | 1/33 |
| Oligomenorrhea | 3.0% | 1/33 |
| Pelvic kidney | 3.0% | 1/33 |
| Phimosis | 3.0% | 1/33 |
| Secondary amenorrhea | 3.0% | 1/33 |
| Ureter duplex | 3.0% | 1/33 |
| Skeleton | ||
| Skeletal abnormalities | 80.0% | 28/35 |
| Pes planus | 20.0% | 7/35 |
| Short digit | 20.0% | 7/35 |
| Tapered finger | 14.3% | 5/35 |
| Valgus foot deformity | 14.3% | 5/35 |
| Brachycephaly | 8.6% | 3/35 |
| Brachydactyly syndrome | 8.6% | 3/35 |
| Short toe | 8.6% | 3/35 |
| Short foot | 8.6% | 3/35 |
| Small hand | 8.6% | 3/35 |
| Wide anterior fontanel | 8.6% | 3/35 |
| Kyphosis | 5.7% | 2/35 |
| Limitation of movement at ankles | 5.7% | 2/35 |
| Sandal gap | 5.7% | 2/35 |
| Abnormality of the clavicle | 2.9% | 1/35 |
| Aplasia/Hypoplasia of fingers | 2.9% | 1/35 |
| Broad thumb | 2.9% | 1/35 |
| Broad toe | 2.9% | 1/35 |
| Broad hallux | 2.9% | 1/35 |
| Broad finger | 2.9% | 1/35 |
| Clinodactyly of the 3rd finger | 2.9% | 1/35 |
| Clinodactyly of the 5th finger | 2.9% | 1/35 |
| Cutaneous finger syndactyly | 2.9% | 1/35 |
| Delayed cranial suture closure | 2.9% | 1/35 |
| Ectopic accessory finger-like appendage | 2.9% | 1/35 |
| Finger clinodactyly | 2.9% | 1/35 |
| Genu valgum | 2.9% | 1/35 |
| Hallux valgus | 2.9% | 1/35 |
| Hip dysplasia | 2.9% | 1/35 |
| Lower limb asymmetry | 2.9% | 1/35 |
| Patellar subluxation | 2.9% | 1/35 |
| Pectus excavatum | 2.9% | 1/35 |
| Plagiocephaly | 2.9% | 1/35 |
| Short 5th metacarpal | 2.9% | 1/35 |
| Short finger | 2.9% | 1/35 |
| Talipes equinovarus | 2.9% | 1/35 |
| Type D brachydactyly | 2.9% | 1/35 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 61.8% | 21/34 |
| Hypertrichosis | 14.7% | 5/34 |
| Synophrys | 14.7% | 5/34 |
| Hirsutism | 11.8% | 4/34 |
| Low posterior hairline | 11.8% | 4/34 |
| Long eyelashes | 8.8% | 3/34 |
| Broad eyebrow | 5.9% | 2/34 |
| Hyperkeratosis pilaris | 5.9% | 2/34 |
| Acanthosis nigricans | 2.9% | 1/34 |
| Acne | 2.9% | 1/34 |
| Aplasia/Hypoplasia of the nails | 2.9% | 1/34 |
| Congenital onychodystrophy | 2.9% | 1/34 |
| Eczema | 2.9% | 1/34 |
| Generalized hirsutism | 2.9% | 1/34 |
| Hyperpigmentation of the skin | 2.9% | 1/34 |
| Low anterior hairline | 2.9% | 1/34 |
| Prominent fingertip pads | 2.9% | 1/34 |
| Redundant neck skin | 2.9% | 1/34 |
| Short nail | 2.9% | 1/34 |
| Sparse hair | 2.9% | 1/34 |
| Supernumerary nipple | 2.9% | 1/34 |
| Thick eyebrow | 2.9% | 1/34 |
| Wide intermamillary distance | 2.9% | 1/34 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 17.6% | 6/34 |
| Growth hormone deficiency | 5.9% | 2/34 |
| Hirsutism | 5.9% | 2/34 |
| Congenital adrenal hyperplasia | 2.9% | 1/34 |
| Delayed puberty | 2.9% | 1/34 |
| Growth delay | 2.9% | 1/34 |
| Hyperthyroidism | 2.9% | 1/34 |
| Abnormality of the metabolic system | 12.1% | 4/33 |
| Abnormality of mitochondrial metabolism | 3.0% | 1/33 |
| Hypoglycemia | 3.0% | 1/33 |
| Mildly elevated creatine phosphokinase | 3.0% | 1/33 |
| Mucopolysacchariduria | 3.0% | 1/33 |
| Abnormality of the immune system | 9.4% | 3/32 |
| IgG deficiency | 3.1% | 1/32 |
| Leukopenia | 3.1% | 1/32 |
| Panhypogammaglobulinemia | 3.1% | 1/32 |
| Thrombocytopenia | 3.1% | 1/32 |