| Gender |
|
|
| Male |
45.8% |
22/48 |
| Female |
54.2% |
26/48 |
| General |
|
|
| Birth Length abnormalities |
18.8% |
9/48 |
| < P3 : Birth length less than 3rd percentile |
16.7% |
8/48 |
| > P98 : Birth length greater than 97th percentile |
2.1% |
1/48 |
| Birth Weight abnormalities |
12.5% |
6/48 |
| < P3 : Small for gestational age |
10.4% |
5/48 |
| > P98 : Large for gestational age |
2.1% |
1/48 |
| Birth Head circumference abnormalities |
14.6% |
7/48 |
| > P98 : Macrocephaly at birth |
10.4% |
5/48 |
| < P3 : Primary microcephaly |
4.2% |
2/48 |
| Current Height abnormalities |
47.9% |
23/48 |
| < P3 : Short stature |
45.8% |
22/48 |
| > P98 : Tall stature |
2.1% |
1/48 |
| Current Weight abnormalities |
37.5% |
18/48 |
| < P3 : Decreased body weight |
31.3% |
15/48 |
| > P98 : Increased body weight |
6.3% |
3/48 |
| Current Head circumference abnormalities |
41.7% |
20/48 |
| < P3 : Microcephaly |
37.5% |
18/48 |
| > P98 : Macrocephaly |
4.2% |
2/48 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
16/16 |
| Autism |
25.0% |
4/16 |
| Bilateral tonic-clonic seizure |
18.8% |
3/16 |
| Severe muscular hypotonia |
18.8% |
3/16 |
| Typical absence seizure |
12.5% |
2/16 |
| Atonic seizure |
6.3% |
1/16 |
| Autistic behavior |
6.3% |
1/16 |
| Axial hypotonia |
6.3% |
1/16 |
| Facial palsy |
6.3% |
1/16 |
| Facial hypotonia |
6.3% |
1/16 |
| Febrile seizure (within the age range of 3 months to 6 years) |
6.3% |
1/16 |
| Generalized-onset seizure |
6.3% |
1/16 |
| Generalized hypotonia |
6.3% |
1/16 |
| Hallucinations |
6.3% |
1/16 |
| Hypotonia |
6.3% |
1/16 |
| Myoclonic seizure |
6.3% |
1/16 |
| Nocturnal seizures |
6.3% |
1/16 |
| Seizure |
6.3% |
1/16 |
| Severe photosensitivity |
6.3% |
1/16 |
| Simple febrile seizure |
6.3% |
1/16 |
| Behavioral problems |
93.3% |
14/15 |
| Aggressive behavior |
46.7% |
7/15 |
| Hyperactivity |
13.3% |
2/15 |
| Self-mutilation |
13.3% |
2/15 |
| Sleep terror |
13.3% |
2/15 |
| Abnormal preoccupation |
6.7% |
1/15 |
| Agitation |
6.7% |
1/15 |
| Anorexia |
6.7% |
1/15 |
| Anxiety |
6.7% |
1/15 |
| Atypical behavior |
6.7% |
1/15 |
| Compulsive behaviors |
6.7% |
1/15 |
| Depression |
6.7% |
1/15 |
| Echolalia |
6.7% |
1/15 |
| Frequent temper tantrums |
6.7% |
1/15 |
| Low frustration tolerance |
6.7% |
1/15 |
| Motor stereotypy |
6.7% |
1/15 |
| Overvalued idea |
6.7% |
1/15 |
| Photophobia |
6.7% |
1/15 |
| Placidity |
6.7% |
1/15 |
| Self-biting |
6.7% |
1/15 |
| Self-injurious behavior |
6.7% |
1/15 |
| Tactile hypersensitivity |
6.7% |
1/15 |
| Brain abnormality |
76.0% |
19/25 |
| Abnormal cerebral ventricle morphology |
8.0% |
2/25 |
| Abnormal cerebral white matter morphology |
8.0% |
2/25 |
| Abnormal periventricular white matter morphology |
8.0% |
2/25 |
| EEG with focal epileptiform discharges |
8.0% |
2/25 |
| Thin corpus callosum |
8.0% |
2/25 |
| Agenesis of corpus callosum |
4.0% |
1/25 |
| Cerebellar cyst |
4.0% |
1/25 |
| Continuous spike and waves during slow sleep |
4.0% |
1/25 |
| Dysplastic corpus callosum |
4.0% |
1/25 |
| Ectopic posterior pituitary |
4.0% |
1/25 |
| EEG with frontal focal spike waves |
4.0% |
1/25 |
| EEG with generalized slow activity |
4.0% |
1/25 |
| Extra-axial cerebrospinal fluid accumulation |
4.0% |
1/25 |
| Frontotemporal cerebral atrophy |
4.0% |
1/25 |
| Gliosis |
4.0% |
1/25 |
| Hydrocephalus |
4.0% |
1/25 |
| Hypoplasia of the corpus callosum |
4.0% |
1/25 |
| Macrocephaly |
4.0% |
1/25 |
| Periventricular leukomalacia |
4.0% |
1/25 |
| Small cerebellar cortex |
4.0% |
1/25 |
| Small pituitary gland |
4.0% |
1/25 |
| Ventriculomegaly |
4.0% |
1/25 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
90.0% |
18/20 |
| Low-set ears |
30.0% |
6/20 |
| Overfolded helix |
15.0% |
3/20 |
| Abnormality of the outer ear |
10.0% |
2/20 |
| Macrotia |
10.0% |
2/20 |
| Abnormal pinna morphology |
5.0% |
1/20 |
| Abnormal earlobe morphology |
5.0% |
1/20 |
| Atresia of the Eustachian tube |
5.0% |
1/20 |
| Branchial cyst |
5.0% |
1/20 |
| Cupped ear |
5.0% |
1/20 |
| Functional abnormality of the middle ear |
5.0% |
1/20 |
| Micrognathia |
5.0% |
1/20 |
| Microtia |
5.0% |
1/20 |
| Otitis media |
5.0% |
1/20 |
| Posteriorly rotated ears |
5.0% |
1/20 |
| Preauricular pit |
5.0% |
1/20 |
| Protruding ear |
5.0% |
1/20 |
| Recurrent otitis media |
5.0% |
1/20 |
| Simple ear |
5.0% |
1/20 |
| Skin tags |
5.0% |
1/20 |
| Abnormality of the eye |
97.4% |
37/38 |
| Iris coloboma |
23.7% |
9/38 |
| Chorioretinal coloboma |
15.8% |
6/38 |
| Strabismus |
15.8% |
6/38 |
| Abnormal eyebrow morphology |
13.2% |
5/38 |
| Downslanted palpebral fissures |
13.2% |
5/38 |
| Long eyelashes |
13.2% |
5/38 |
| Ptosis |
13.2% |
5/38 |
| obsolete Prominent epicanthal folds |
10.5% |
4/38 |
| Upslanted palpebral fissure |
10.5% |
4/38 |
| Highly arched eyebrow |
7.9% |
3/38 |
| Retinal coloboma |
7.9% |
3/38 |
| Short palpebral fissure |
7.9% |
3/38 |
| Thick eyebrow |
7.9% |
3/38 |
| Bilateral microphthalmos |
5.3% |
2/38 |
| Deeply set eye |
5.3% |
2/38 |
| Epicanthus |
5.3% |
2/38 |
| Hypertelorism |
5.3% |
2/38 |
| Narrow palpebral fissure |
5.3% |
2/38 |
| Nystagmus |
5.3% |
2/38 |
| Optic disc coloboma |
5.3% |
2/38 |
| Abnormal eyelash morphology |
2.6% |
1/38 |
| Almond-shaped palpebral fissure |
2.6% |
1/38 |
| Astigmatism |
2.6% |
1/38 |
| Chorioretinal atrophy |
2.6% |
1/38 |
| Coloboma |
2.6% |
1/38 |
| Exotropia |
2.6% |
1/38 |
| Horizontal jerk nystagmus |
2.6% |
1/38 |
| Inferior chorioretinal coloboma |
2.6% |
1/38 |
| Microphthalmia |
2.6% |
1/38 |
| Myopia |
2.6% |
1/38 |
| Naevus flammeus of the eyelid |
2.6% |
1/38 |
| obsolete Choroid coloboma |
2.6% |
1/38 |
| Prominent eyelashes |
2.6% |
1/38 |
| Proptosis |
2.6% |
1/38 |
| Sparse eyebrow |
2.6% |
1/38 |
| Superior oblique muscle weakness |
2.6% |
1/38 |
| Abnormality of the nose |
100.0% |
23/23 |
| Wide nasal bridge |
43.5% |
10/23 |
| Broad nasal tip |
39.1% |
9/23 |
| Anteverted nares |
34.8% |
8/23 |
| Prominent nose |
8.7% |
2/23 |
| Short nose |
8.7% |
2/23 |
| Abnormal nasal tip morphology |
4.3% |
1/23 |
| Broad columella |
4.3% |
1/23 |
| Bulbous nose |
4.3% |
1/23 |
| Depressed nasal bridge |
4.3% |
1/23 |
| Downslanted palpebral fissures |
4.3% |
1/23 |
| Prominent nasal tip |
4.3% |
1/23 |
| Short columella |
4.3% |
1/23 |
| Abnormality of the mouth |
100.0% |
32/32 |
| Long philtrum |
40.6% |
13/32 |
| Thin upper lip vermilion |
34.4% |
11/32 |
| High palate |
25.0% |
8/32 |
| Micrognathia |
21.9% |
7/32 |
| Dental crowding |
18.8% |
6/32 |
| Full cheeks |
18.8% |
6/32 |
| Smooth philtrum |
12.5% |
4/32 |
| Microretrognathia |
6.3% |
2/32 |
| Retrognathia |
6.3% |
2/32 |
| Thick vermilion border |
6.3% |
2/32 |
| Tooth malposition |
6.3% |
2/32 |
| Abnormality of the temporomandibular joint |
3.1% |
1/32 |
| Abnormality of premolar |
3.1% |
1/32 |
| Abnormal maxilla morphology |
3.1% |
1/32 |
| Broad columella |
3.1% |
1/32 |
| Broad philtrum |
3.1% |
1/32 |
| Exaggerated cupid's bow |
3.1% |
1/32 |
| Increased overbite |
3.1% |
1/32 |
| Macrodontia |
3.1% |
1/32 |
| Macrodontia of permanent maxillary central incisor |
3.1% |
1/32 |
| Narrow mouth |
3.1% |
1/32 |
| Open mouth |
3.1% |
1/32 |
| Preauricular pit |
3.1% |
1/32 |
| Submucous cleft palate |
3.1% |
1/32 |
| Supernumerary tooth |
3.1% |
1/32 |
| Supernumerary maxillary incisor |
3.1% |
1/32 |
| Talon cusp |
3.1% |
1/32 |
| Tented upper lip vermilion |
3.1% |
1/32 |
| Thick upper lip vermilion |
3.1% |
1/32 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
54.5% |
12/22 |
| Hearing abnormality |
18.2% |
4/22 |
| Conductive hearing impairment |
13.6% |
3/22 |
| Bilateral conductive hearing impairment |
4.5% |
1/22 |
| High-frequency sensorineural hearing impairment |
4.5% |
1/22 |
| High-frequency hearing impairment |
4.5% |
1/22 |
| Low-frequency hearing loss |
4.5% |
1/22 |
| Moderate hearing impairment |
4.5% |
1/22 |
| Tinnitus |
4.5% |
1/22 |
| Abnormal vision |
68.0% |
17/25 |
| Hypermetropia |
20.0% |
5/25 |
| Optic nerve hypoplasia |
20.0% |
5/25 |
| Amblyopia |
12.0% |
3/25 |
| Esotropia |
12.0% |
3/25 |
| Exotropia |
12.0% |
3/25 |
| Optic disc coloboma |
12.0% |
3/25 |
| Myopia |
8.0% |
2/25 |
| Abnormal optic nerve morphology |
4.0% |
1/25 |
| Anisometropia |
4.0% |
1/25 |
| Astigmatism |
4.0% |
1/25 |
| Optic nerve dysplasia |
4.0% |
1/25 |
| Heart |
|
|
| Abnormality of the heart |
65.0% |
26/40 |
| Ventricular septal defect |
22.5% |
9/40 |
| Patent ductus arteriosus |
10.0% |
4/40 |
| Tetralogy of Fallot |
10.0% |
4/40 |
| Atrial septal defect |
7.5% |
3/40 |
| Heart murmur |
7.5% |
3/40 |
| Coarctation of aorta |
5.0% |
2/40 |
| Patent foramen ovale |
5.0% |
2/40 |
| Perimembranous ventricular septal defect |
5.0% |
2/40 |
| Truncus arteriosus |
5.0% |
2/40 |
| Aortic regurgitation |
2.5% |
1/40 |
| Bicuspid aortic valve |
2.5% |
1/40 |
| Coronary artery stenosis |
2.5% |
1/40 |
| Mitral valve prolapse |
2.5% |
1/40 |
| Mitral regurgitation |
2.5% |
1/40 |
| Pulmonary artery stenosis |
2.5% |
1/40 |
| Valvular pulmonary stenosis |
2.5% |
1/40 |
| Pulmonary |
|
|
| Abnormality of the lungs |
66.7% |
4/6 |
| Obstructive sleep apnea |
33.3% |
2/6 |
| Inspiratory stridor |
16.7% |
1/6 |
| Renal agenesis |
16.7% |
1/6 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
95.5% |
21/22 |
| Feeding difficulties |
50.0% |
11/22 |
| Vomiting |
13.6% |
3/22 |
| Chronic diarrhea |
9.1% |
2/22 |
| Abnormal stool composition |
4.5% |
1/22 |
| Constipation |
4.5% |
1/22 |
| Fetal bowel dilatation |
4.5% |
1/22 |
| Gastroesophageal reflux |
4.5% |
1/22 |
| Oral-pharyngeal dysphagia |
4.5% |
1/22 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
60.0% |
15/25 |
| Cryptorchidism |
8.0% |
2/25 |
| Hydronephrosis |
8.0% |
2/25 |
| Renal agenesis |
8.0% |
2/25 |
| Unilateral renal agenesis |
8.0% |
2/25 |
| Vesicoureteral reflux |
8.0% |
2/25 |
| Abnormal renal physiology |
4.0% |
1/25 |
| Bilateral fetal pyelectasis |
4.0% |
1/25 |
| External genital hypoplasia |
4.0% |
1/25 |
| Horseshoe kidney |
4.0% |
1/25 |
| Hypospadias |
4.0% |
1/25 |
| Nephrolithiasis |
4.0% |
1/25 |
| Pelvic kidney |
4.0% |
1/25 |
| Renal hypoplasia |
4.0% |
1/25 |
| Retractile testis |
4.0% |
1/25 |
| Stress urinary incontinence |
4.0% |
1/25 |
| Unilateral cryptorchidism |
4.0% |
1/25 |
| Urinary urgency |
4.0% |
1/25 |
| Skeleton |
|
|
| Skeletal abnormalities |
97.8% |
44/45 |
| Short neck |
33.3% |
15/45 |
| Pectus excavatum |
17.8% |
8/45 |
| Scoliosis |
17.8% |
8/45 |
| Joint hypermobility |
13.3% |
6/45 |
| Clinodactyly of the 5th finger |
8.9% |
4/45 |
| Hemivertebrae |
8.9% |
4/45 |
| Pes planus |
8.9% |
4/45 |
| Sprengel anomaly |
6.7% |
3/45 |
| Abnormal vertebral morphology |
4.4% |
2/45 |
| Abnormal foot morphology |
4.4% |
2/45 |
| Bilateral talipes equinovarus |
4.4% |
2/45 |
| Brachydactyly |
4.4% |
2/45 |
| Broad neck |
4.4% |
2/45 |
| Cervical C5/C6 vertebrae fusion |
4.4% |
2/45 |
| Dysharmonic delayed bone age |
4.4% |
2/45 |
| Hand polydactyly |
4.4% |
2/45 |
| Micromelia |
4.4% |
2/45 |
| Pes valgus |
4.4% |
2/45 |
| Preaxial hand polydactyly |
4.4% |
2/45 |
| Short 5th finger |
4.4% |
2/45 |
| Short foot |
4.4% |
2/45 |
| Thoracic scoliosis |
4.4% |
2/45 |
| Abnormality of the temporomandibular joint |
2.2% |
1/45 |
| Abnormal thoracic spine morphology |
2.2% |
1/45 |
| Abnormal anterior fontanelle morphology |
2.2% |
1/45 |
| Abnormal thorax morphology |
2.2% |
1/45 |
| Abnormal axial skeleton morphology |
2.2% |
1/45 |
| Abnormality of intracranial pressure |
2.2% |
1/45 |
| Abnormality of the epiphyses of the hallux |
2.2% |
1/45 |
| Abnormality of the hand |
2.2% |
1/45 |
| Abnormal 5th metacarpal morphology |
2.2% |
1/45 |
| Abnormal femoral head morphology |
2.2% |
1/45 |
| Abnormality of depressor anguli oris muscle |
2.2% |
1/45 |
| Abnormal conus terminalis morphology |
2.2% |
1/45 |
| Absent/hypoplastic coccyx |
2.2% |
1/45 |
| Anterior beaking of lower thoracic vertebrae |
2.2% |
1/45 |
| Aplasia/Hypoplasia of the 5th finger |
2.2% |
1/45 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
2.2% |
1/45 |
| Bifid distal phalanx of the thumb |
2.2% |
1/45 |
| Broad hallux |
2.2% |
1/45 |
| Broad thumb |
2.2% |
1/45 |
| Broad proximal phalanges of the hand |
2.2% |
1/45 |
| Broad phalanx |
2.2% |
1/45 |
| Cervical ribs |
2.2% |
1/45 |
| Cervical C2/C3 vertebral fusion |
2.2% |
1/45 |
| C1-C2 vertebral abnormality |
2.2% |
1/45 |
| Delayed closure of the anterior fontanelle |
2.2% |
1/45 |
| Delayed epiphyseal ossification |
2.2% |
1/45 |
| Deviation of the 5th finger |
2.2% |
1/45 |
| Deviation of the hallux |
2.2% |
1/45 |
| Deviation of the 3rd finger |
2.2% |
1/45 |
| Deviation of the 4th finger |
2.2% |
1/45 |
| Disproportionate short-trunk short stature |
2.2% |
1/45 |
| Finger joint hypermobility |
2.2% |
1/45 |
| Hip dysplasia |
2.2% |
1/45 |
| Hip dislocation |
2.2% |
1/45 |
| Hip joint hypermobility |
2.2% |
1/45 |
| Hypertrichosis |
2.2% |
1/45 |
| Hyperextensible thumb |
2.2% |
1/45 |
| Kyphosis |
2.2% |
1/45 |
| Kyphoscoliosis |
2.2% |
1/45 |
| Lipoma |
2.2% |
1/45 |
| Long toe |
2.2% |
1/45 |
| Long fingers |
2.2% |
1/45 |
| Lumbar hemivertebrae |
2.2% |
1/45 |
| Lumbar scoliosis |
2.2% |
1/45 |
| Marked delay in bone age |
2.2% |
1/45 |
| Mesomelic/rhizomelic limb shortening |
2.2% |
1/45 |
| Metacarpal pseudoepiphysis |
2.2% |
1/45 |
| obsolete Joint laxity |
2.2% |
1/45 |
| Partial duplication of the phalanx of hand |
2.2% |
1/45 |
| Pectus carinatum |
2.2% |
1/45 |
| Postaxial hand polydactyly |
2.2% |
1/45 |
| Preaxial polydactyly |
2.2% |
1/45 |
| Progressive congenital scoliosis |
2.2% |
1/45 |
| Recurrent patellar dislocation |
2.2% |
1/45 |
| Rib fusion |
2.2% |
1/45 |
| Sandal gap |
2.2% |
1/45 |
| Short 5th toe |
2.2% |
1/45 |
| Short first metatarsal |
2.2% |
1/45 |
| Short hallux |
2.2% |
1/45 |
| Short toe |
2.2% |
1/45 |
| Slender finger |
2.2% |
1/45 |
| Spina bifida occulta |
2.2% |
1/45 |
| Spinal dysraphism |
2.2% |
1/45 |
| Spondylolisthesis |
2.2% |
1/45 |
| Supernumerary ribs |
2.2% |
1/45 |
| Talipes |
2.2% |
1/45 |
| Talipes equinovarus |
2.2% |
1/45 |
| Tapered finger |
2.2% |
1/45 |
| Tethered cord |
2.2% |
1/45 |
| Thoracolumbar scoliosis |
2.2% |
1/45 |
| Thoracic cage flatness |
2.2% |
1/45 |
| Toe clinodactyly |
2.2% |
1/45 |
| 2-3 toe syndactyly |
2.2% |
1/45 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
95.8% |
23/24 |
| Hypertrichosis |
29.2% |
7/24 |
| Low posterior hairline |
12.5% |
3/24 |
| Cafe-au-lait spot |
8.3% |
2/24 |
| High anterior hairline |
8.3% |
2/24 |
| Hyperextensible skin |
8.3% |
2/24 |
| Skin tags |
8.3% |
2/24 |
| Abnormality of hair texture |
4.2% |
1/24 |
| Cyanosis |
4.2% |
1/24 |
| Dry skin |
4.2% |
1/24 |
| Hyperkeratosis |
4.2% |
1/24 |
| Hyperpigmented/hypopigmented macules |
4.2% |
1/24 |
| Hyperpigmentation of the skin |
4.2% |
1/24 |
| Hypopigmentation of hair |
4.2% |
1/24 |
| Hypopigmented skin patches |
4.2% |
1/24 |
| Increased nuchal translucency |
4.2% |
1/24 |
| Inverted nipples |
4.2% |
1/24 |
| Low anterior hairline |
4.2% |
1/24 |
| Nevus flammeus |
4.2% |
1/24 |
| Numerous pigmented freckles |
4.2% |
1/24 |
| Single transverse palmar crease |
4.2% |
1/24 |
| Soft skin |
4.2% |
1/24 |
| Swan neck-like deformities of the fingers |
4.2% |
1/24 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
50.0% |
1/2 |
| Exocrine pancreatic insufficiency |
50.0% |
1/2 |
| Abnormality of the immune system |
50.0% |
1/2 |
| Recurrent infections |
50.0% |
1/2 |
| Neoplasia |
|
|
| Neoplasia |
100.0% |
2/2 |
| Maternal amniocentesis |
50.0% |
1/2 |
| Supratentorial neoplasm |
50.0% |
1/2 |