WAC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.3% | 11/26 |
| Female | 57.7% | 15/26 |
| Indifferent | 0% | 0/26 |
| Unknown | 0% | 0/26 |
| General | ||
| Birth Length abnormalities | 4.0% | 1/25 |
| > P98 : Birth length greater than 97th percentile | 4.0% | 1/25 |
| Birth Weight abnormalities | 11.5% | 3/26 |
| > P98 : Large for gestational age | 7.7% | 2/26 |
| < P3 : Small for gestational age | 3.8% | 1/26 |
| Birth Head circumference abnormalities | 3.8% | 1/26 |
| < P3 : Congenital microcephaly | 3.8% | 1/26 |
| Current Height abnormalities | 26.9% | 7/26 |
| < P3 : Short stature | 23.1% | 6/26 |
| > P98 : Tall stature | 3.8% | 1/26 |
| Current Weight abnormalities | 26.9% | 7/26 |
| > P98 : Increased body weight | 23.1% | 6/26 |
| < P3 : Decreased body weight | 3.8% | 1/26 |
| Current Head circumference abnormalities | 23.1% | 6/26 |
| > P98 : Macrocephaly | 19.2% | 5/26 |
| < P3 : Microcephaly | 3.8% | 1/26 |
| Neurology | ||
| Neurological abnormalities | 92.3% | 24/26 |
| Muscular hypotonia | 53.8% | 14/26 |
| Oral motor hypotonia | 26.9% | 7/26 |
| Neurodevelopmental delay | 15.4% | 4/26 |
| Seizures | 15.4% | 4/26 |
| Abnormality of coordination | 3.8% | 1/26 |
| Cataplexy | 3.8% | 1/26 |
| Clumsiness | 3.8% | 1/26 |
| EEG abnormality | 3.8% | 1/26 |
| Expressive language delay | 3.8% | 1/26 |
| Generalized hypotonia | 3.8% | 1/26 |
| Hyporeflexia | 3.8% | 1/26 |
| Muscular hypotonia of the trunk | 3.8% | 1/26 |
| Speech articulation difficulties | 3.8% | 1/26 |
| Behavioral problems | 87.5% | 21/24 |
| Attention deficit hyperactivity disorder | 37.5% | 9/24 |
| Anxiety | 33.3% | 8/24 |
| Sleep disturbance | 33.3% | 8/24 |
| Autism | 16.7% | 4/24 |
| Self-injurious behavior | 8.3% | 2/24 |
| Abnormal aggressive, impulsive or violent behavior | 4.2% | 1/24 |
| Aggressive behavior | 4.2% | 1/24 |
| Agitation | 4.2% | 1/24 |
| Autistic behavior | 4.2% | 1/24 |
| Hyperactivity | 4.2% | 1/24 |
| Impaired social interactions | 4.2% | 1/24 |
| Irritability | 4.2% | 1/24 |
| Poor eye contact | 4.2% | 1/24 |
| Brain abnormality | 33.3% | 7/21 |
| Ventriculomegaly | 9.5% | 2/21 |
| Abnormality of brain morphology | 4.8% | 1/21 |
| Abnormality of nervous system morphology | 4.8% | 1/21 |
| Arachnoid cyst | 4.8% | 1/21 |
| Enlarged cisterna magna | 4.8% | 1/21 |
| Morphological abnormality of the central nervous system | 4.8% | 1/21 |
| Widened subarachnoid space | 4.8% | 1/21 |
| Facial abnormalities | ||
| Abnormality of the ear | 47.8% | 11/23 |
| Posteriorly rotated ears | 17.4% | 4/23 |
| Prominent antihelix | 17.4% | 4/23 |
| Abnormality of the outer ear | 8.7% | 2/23 |
| Abnormality of the helix | 8.7% | 2/23 |
| Low-set ears | 8.7% | 2/23 |
| Preauricular pit | 8.7% | 2/23 |
| Preauricular skin tag | 4.3% | 1/23 |
| Stenosis of the external auditory canal | 4.3% | 1/23 |
| Abnormality of the eye | 100.0% | 24/24 |
| Deeply set eye | 41.7% | 10/24 |
| Strabismus | 33.3% | 8/24 |
| Hypertelorism | 25.0% | 6/24 |
| Long palpebral fissure | 25.0% | 6/24 |
| Epicanthus | 20.8% | 5/24 |
| Downslanted palpebral fissures | 16.7% | 4/24 |
| Ptosis | 16.7% | 4/24 |
| Long eyelashes | 12.5% | 3/24 |
| Bilateral ptosis | 4.2% | 1/24 |
| Horizontal eyebrow | 4.2% | 1/24 |
| Lacrimal duct stenosis | 4.2% | 1/24 |
| Orbital cyst | 4.2% | 1/24 |
| Telecanthus | 4.2% | 1/24 |
| Abnormality of the nose | 65.2% | 15/23 |
| Abnormality of the nasal bridge | 43.5% | 10/23 |
| Bulbous nose | 43.5% | 10/23 |
| Anteverted nares | 13.0% | 3/23 |
| Depressed nasal bridge | 4.3% | 1/23 |
| Flared nostrils | 4.3% | 1/23 |
| Abnormality of the mouth | 73.9% | 17/23 |
| Wide mouth | 39.1% | 9/23 |
| Thin upper lip vermilion | 21.7% | 5/23 |
| Abnormality of the teeth | 8.7% | 2/23 |
| Downturned corners of mouth | 8.7% | 2/23 |
| High palate | 8.7% | 2/23 |
| Long philtrum | 8.7% | 2/23 |
| Thick vermilion border | 8.7% | 2/23 |
| Abnormality of the gingiva | 4.3% | 1/23 |
| Ankyloglossia | 4.3% | 1/23 |
| Bifid tongue | 4.3% | 1/23 |
| Cleft palate | 4.3% | 1/23 |
| Dental crowding | 4.3% | 1/23 |
| Macroglossia | 4.3% | 1/23 |
| Macrodontia | 4.3% | 1/23 |
| Protruding tongue | 4.3% | 1/23 |
| Thick lower lip vermilion | 4.3% | 1/23 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.7% | 4/24 |
| Bilateral sensorineural hearing impairment | 4.2% | 1/24 |
| Hearing abnormality | 4.2% | 1/24 |
| Hyperacusis | 4.2% | 1/24 |
| Unilateral conductive hearing impairment | 4.2% | 1/24 |
| Abnormal vision | 56.5% | 13/23 |
| Strabismus | 34.8% | 8/23 |
| Myopia | 17.4% | 4/23 |
| Astigmatism | 13.0% | 3/23 |
| Hypermetropia | 8.7% | 2/23 |
| Reduced visual acuity | 8.7% | 2/23 |
| Amblyopia | 4.3% | 1/23 |
| Cortical visual impairment | 4.3% | 1/23 |
| Hyperopic astigmatism | 4.3% | 1/23 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 58.3% | 14/24 |
| Feeding difficulties | 37.5% | 9/24 |
| Constipation | 25.0% | 6/24 |
| Gastroesophageal reflux | 12.5% | 3/24 |
| Chronic constipation | 8.3% | 2/24 |
| Abdominal symptom | 4.2% | 1/24 |
| Bowel incontinence | 4.2% | 1/24 |
| Dysphagia | 4.2% | 1/24 |
| Hiatus hernia | 4.2% | 1/24 |
| Urogenital | ||
| Abnormality of the urogenital system | 27.3% | 6/22 |
| Abnormality of the kidney | 4.5% | 1/22 |
| Enuresis nocturna | 4.5% | 1/22 |
| Hydronephrosis | 4.5% | 1/22 |
| Pelvic kidney | 4.5% | 1/22 |
| Phimosis | 4.5% | 1/22 |
| Ureter duplex | 4.5% | 1/22 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 18/24 |
| Short digit | 29.2% | 7/24 |
| Pes planus | 25.0% | 6/24 |
| Tapered finger | 20.8% | 5/24 |
| Valgus foot deformity | 20.8% | 5/24 |
| Brachycephaly | 12.5% | 3/24 |
| Short toe | 12.5% | 3/24 |
| Wide anterior fontanel | 12.5% | 3/24 |
| Sandal gap | 8.3% | 2/24 |
| Short foot | 8.3% | 2/24 |
| Aplasia/Hypoplasia of fingers | 4.2% | 1/24 |
| Brachydactyly syndrome | 4.2% | 1/24 |
| Broad hallux | 4.2% | 1/24 |
| Broad finger | 4.2% | 1/24 |
| Broad thumb | 4.2% | 1/24 |
| Clinodactyly of the 5th finger | 4.2% | 1/24 |
| Cutaneous finger syndactyly | 4.2% | 1/24 |
| Delayed cranial suture closure | 4.2% | 1/24 |
| Ectopic accessory finger-like appendage | 4.2% | 1/24 |
| Finger clinodactyly | 4.2% | 1/24 |
| Hallux valgus | 4.2% | 1/24 |
| Hip dysplasia | 4.2% | 1/24 |
| Kyphosis | 4.2% | 1/24 |
| Limitation of movement at ankles | 4.2% | 1/24 |
| Plagiocephaly | 4.2% | 1/24 |
| Short 5th metacarpal | 4.2% | 1/24 |
| Small hand | 4.2% | 1/24 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 40.9% | 9/22 |
| Hirsutism | 18.2% | 4/22 |
| Hyperkeratosis pilaris | 9.1% | 2/22 |
| Low posterior hairline | 9.1% | 2/22 |
| Aplasia/Hypoplasia of the nails | 4.5% | 1/22 |
| Generalized hirsutism | 4.5% | 1/22 |
| Hypertrichosis | 4.5% | 1/22 |
| Sparse hair | 4.5% | 1/22 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 13.6% | 3/22 |
| Growth hormone deficiency | 9.1% | 2/22 |
| Delayed puberty | 4.5% | 1/22 |
| Abnormality of the metabolic system | 17.4% | 4/23 |
| Abnormality of mitochondrial metabolism | 4.3% | 1/23 |
| Hypoglycemia | 4.3% | 1/23 |
| Mildly elevated creatine phosphokinase | 4.3% | 1/23 |
| Mucopolysacchariduria | 4.3% | 1/23 |
| Abnormality of the immune system | 9.1% | 2/22 |
| IgG deficiency | 4.5% | 1/22 |
| Leukopenia | 4.5% | 1/22 |