| Gender |
|
|
| Male |
45.8% |
11/24 |
| Female |
54.2% |
13/24 |
| General |
|
|
| Birth Length abnormalities |
20.8% |
5/24 |
| < P3 : Birth length less than 3rd percentile |
20.8% |
5/24 |
| Birth Weight abnormalities |
25.0% |
6/24 |
| < P3 : Small for gestational age |
25.0% |
6/24 |
| Birth Head circumference abnormalities |
8.3% |
2/24 |
| < P3 : Congenital microcephaly |
8.3% |
2/24 |
| Current Height abnormalities |
20.8% |
5/24 |
| < P3 : Short stature |
20.8% |
5/24 |
| Current Weight abnormalities |
33.3% |
8/24 |
| < P3 : Decreased body weight |
29.2% |
7/24 |
| > P98 : Increased body weight |
4.2% |
1/24 |
| Current Head circumference abnormalities |
16.7% |
4/24 |
| < P3 : Microcephaly |
16.7% |
4/24 |
| Neurology |
|
|
| Neurological abnormalities |
91.7% |
22/24 |
| Muscular hypotonia |
54.2% |
13/24 |
| Febrile seizures |
50.0% |
12/24 |
| Seizures |
29.2% |
7/24 |
| EEG abnormality |
25.0% |
6/24 |
| Broad-based gait |
16.7% |
4/24 |
| Generalized tonic-clonic seizures |
16.7% |
4/24 |
| Absence seizures |
12.5% |
3/24 |
| Brisk reflexes |
8.3% |
2/24 |
| Gait disturbance |
8.3% |
2/24 |
| Gait ataxia |
8.3% |
2/24 |
| Hemiparesis |
8.3% |
2/24 |
| Spastic gait |
8.3% |
2/24 |
| Action tremor |
4.2% |
1/24 |
| Cranial nerve VI palsy |
4.2% |
1/24 |
| Developmental regression |
4.2% |
1/24 |
| EEG with frontal focal spikes |
4.2% |
1/24 |
| EEG with generalized epileptiform discharges |
4.2% |
1/24 |
| Focal epileptiform discharges with limited propagation to contralateral hemisphere |
4.2% |
1/24 |
| Hyperactive patellar reflex |
4.2% |
1/24 |
| Limb hypertonia |
4.2% |
1/24 |
| Migraine |
4.2% |
1/24 |
| Multifocal epileptiform discharges |
4.2% |
1/24 |
| Spastic diplegia |
4.2% |
1/24 |
| Stereotypic behavior |
4.2% |
1/24 |
| Behavioral problems |
72.7% |
16/22 |
| Stereotypic behavior |
31.8% |
7/22 |
| Autism |
27.3% |
6/22 |
| Absent speech |
22.7% |
5/22 |
| Anxiety |
22.7% |
5/22 |
| Attention deficit hyperactivity disorder |
9.1% |
2/22 |
| Bruxism |
9.1% |
2/22 |
| Sleep disturbance |
9.1% |
2/22 |
| Stereotypical body rocking |
9.1% |
2/22 |
| Stereotypical hand wringing |
9.1% |
2/22 |
| Abnormal social behavior |
4.5% |
1/22 |
| Aggressive behavior |
4.5% |
1/22 |
| Autistic behavior |
4.5% |
1/22 |
| Broad-based gait |
4.5% |
1/22 |
| Developmental regression |
4.5% |
1/22 |
| Disinhibition |
4.5% |
1/22 |
| Drooling |
4.5% |
1/22 |
| Dysarthria |
4.5% |
1/22 |
| Hair-pulling |
4.5% |
1/22 |
| Inappropriate laughter |
4.5% |
1/22 |
| Personality changes |
4.5% |
1/22 |
| Pica |
4.5% |
1/22 |
| Polyphagia |
4.5% |
1/22 |
| Poor coordination |
4.5% |
1/22 |
| Recurrent hand flapping |
4.5% |
1/22 |
| Self-biting |
4.5% |
1/22 |
| Self-injurious behavior |
4.5% |
1/22 |
| Speech apraxia |
4.5% |
1/22 |
| Tics |
4.5% |
1/22 |
| Brain abnormality |
68.2% |
15/22 |
| Abnormality of the corpus callosum |
27.3% |
6/22 |
| Abnormality of the cerebral white matter |
18.2% |
4/22 |
| Pineal cyst |
18.2% |
4/22 |
| Abnormality of the cerebrum |
9.1% |
2/22 |
| Arachnoid cyst |
9.1% |
2/22 |
| Dilation of lateral ventricles |
9.1% |
2/22 |
| Abnormality of brain morphology |
4.5% |
1/22 |
| Abnormality of forebrain morphology |
4.5% |
1/22 |
| Asymmetric ventricles |
4.5% |
1/22 |
| Cerebellar hemisphere hypoplasia |
4.5% |
1/22 |
| Cerebellar vermis hypoplasia |
4.5% |
1/22 |
| Hypoplasia of the corpus callosum |
4.5% |
1/22 |
| Morphological abnormality of the central nervous system |
4.5% |
1/22 |
| Pachygyria |
4.5% |
1/22 |
| Periventricular leukomalacia |
4.5% |
1/22 |
| Perivascular spaces |
4.5% |
1/22 |
| Polymicrogyria, anterior to posterior gradient |
4.5% |
1/22 |
| Ventriculomegaly |
4.5% |
1/22 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
20.8% |
5/24 |
| Posteriorly rotated ears |
8.3% |
2/24 |
| Cupped ear |
4.2% |
1/24 |
| Low-set ears |
4.2% |
1/24 |
| Mild conductive hearing impairment |
4.2% |
1/24 |
| Overfolded helix |
4.2% |
1/24 |
| Protruding ear |
4.2% |
1/24 |
| Round ear |
4.2% |
1/24 |
| Thickened ears |
4.2% |
1/24 |
| Abnormality of the eye |
95.8% |
23/24 |
| Large eyes |
41.7% |
10/24 |
| Hypertelorism |
20.8% |
5/24 |
| Infra-orbital crease |
20.8% |
5/24 |
| Abnormality of the iris |
16.7% |
4/24 |
| Upslanted palpebral fissure |
16.7% |
4/24 |
| Abnormal shape of the palpebral fissure |
12.5% |
3/24 |
| Proptosis |
12.5% |
3/24 |
| Abnormality of the palpebral fissures |
8.3% |
2/24 |
| Abnormality of the conjunctiva |
4.2% |
1/24 |
| Abnormality of eye movement |
4.2% |
1/24 |
| Blue irides |
4.2% |
1/24 |
| Chalazion |
4.2% |
1/24 |
| Downslanted palpebral fissures |
4.2% |
1/24 |
| Horizontal eyebrow |
4.2% |
1/24 |
| Iris nevus |
4.2% |
1/24 |
| Long eyelashes |
4.2% |
1/24 |
| Strabismus |
4.2% |
1/24 |
| Abnormality of the nose |
95.8% |
23/24 |
| Broad nasal tip |
75.0% |
18/24 |
| Anteverted nares |
54.2% |
13/24 |
| Depressed nasal bridge |
45.8% |
11/24 |
| Short nasal bridge |
20.8% |
5/24 |
| Narrow naris |
8.3% |
2/24 |
| Low hanging columella |
4.2% |
1/24 |
| Midface retrusion |
4.2% |
1/24 |
| Short nose |
4.2% |
1/24 |
| Abnormality of the mouth |
95.8% |
23/24 |
| Absent cupid's bow |
66.7% |
16/24 |
| Hyperplasia of the maxilla |
66.7% |
16/24 |
| Widely spaced teeth |
66.7% |
16/24 |
| Abnormality of the gingiva |
45.8% |
11/24 |
| Wide mouth |
41.7% |
10/24 |
| Thick vermilion border |
37.5% |
9/24 |
| Micrognathia |
20.8% |
5/24 |
| Persistence of primary teeth |
20.8% |
5/24 |
| Thin upper lip vermilion |
12.5% |
3/24 |
| Cleft soft palate |
8.3% |
2/24 |
| Delayed eruption of primary teeth |
8.3% |
2/24 |
| Open mouth |
8.3% |
2/24 |
| Abnormality of the tongue |
4.2% |
1/24 |
| Agenesis of lateral incisor |
4.2% |
1/24 |
| Broad secondary alveolar ridge |
4.2% |
1/24 |
| Diastema |
4.2% |
1/24 |
| Fibrous syngnathia |
4.2% |
1/24 |
| Incisor macrodontia |
4.2% |
1/24 |
| Mandibular prognathia |
4.2% |
1/24 |
| Pierre-Robin sequence |
4.2% |
1/24 |
| Tented upper lip vermilion |
4.2% |
1/24 |
| Thick lower lip vermilion |
4.2% |
1/24 |
| Widely-spaced maxillary central incisors |
4.2% |
1/24 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
13.0% |
3/23 |
| Blocked Eustachian tube |
4.3% |
1/23 |
| Mild conductive hearing impairment |
4.3% |
1/23 |
| Mild hearing impairment |
4.3% |
1/23 |
| Abnormal vision |
56.5% |
13/23 |
| Strabismus |
30.4% |
7/23 |
| Hypermetropia |
26.1% |
6/23 |
| Amblyopia |
8.7% |
2/23 |
| Myopia |
8.7% |
2/23 |
| Abnormality of vision |
4.3% |
1/23 |
| Anisometropia |
4.3% |
1/23 |
| Astigmatism |
4.3% |
1/23 |
| Exotropia |
4.3% |
1/23 |
| Heart |
|
|
| Abnormality of the heart |
10.0% |
2/20 |
| Right aortic arch |
5.0% |
1/20 |
| Ventricular septal defect |
5.0% |
1/20 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
34.8% |
8/23 |
| Gastroesophageal reflux |
21.7% |
5/23 |
| Constipation |
17.4% |
4/23 |
| Diarrhea |
4.3% |
1/23 |
| Gastrostomy tube feeding in infancy |
4.3% |
1/23 |
| Intermittent diarrhea |
4.3% |
1/23 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
15.0% |
3/20 |
| Unilateral cryptorchidism |
10.0% |
2/20 |
| Cryptorchidism |
5.0% |
1/20 |
| Inguinal hernia |
5.0% |
1/20 |
| Skeleton |
|
|
| Skeletal abnormalities |
76.2% |
16/21 |
| Clinodactyly of the 5th finger |
19.0% |
4/21 |
| Pectus carinatum |
9.5% |
2/21 |
| Pes cavus |
9.5% |
2/21 |
| Pes planus |
9.5% |
2/21 |
| Short foot |
9.5% |
2/21 |
| Short stature |
9.5% |
2/21 |
| Abnormality of the 2nd toe |
4.8% |
1/21 |
| Congenital hip dislocation |
4.8% |
1/21 |
| Genu valgum |
4.8% |
1/21 |
| Hip dysplasia |
4.8% |
1/21 |
| Joint stiffness |
4.8% |
1/21 |
| Knee flexion contracture |
4.8% |
1/21 |
| Limited knee extension |
4.8% |
1/21 |
| Limited hip extension |
4.8% |
1/21 |
| Long fingers |
4.8% |
1/21 |
| Metatarsus adductus |
4.8% |
1/21 |
| Osteopathia striata |
4.8% |
1/21 |
| Pectus excavatum |
4.8% |
1/21 |
| Proportionate shortening of all digits |
4.8% |
1/21 |
| Proximal placement of thumb |
4.8% |
1/21 |
| Sacral dimple |
4.8% |
1/21 |
| Sandal gap |
4.8% |
1/21 |
| Scoliosis |
4.8% |
1/21 |
| Short 5th finger |
4.8% |
1/21 |
| Small hand |
4.8% |
1/21 |
| Tapering pointed ends of distal finger phalanges |
4.8% |
1/21 |
| Thoracic kyphosis |
4.8% |
1/21 |
| Torticollis |
4.8% |
1/21 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
52.2% |
12/23 |
| Sparse lateral eyebrow |
26.1% |
6/23 |
| Abnormality of the eyebrow |
17.4% |
4/23 |
| Eczema |
8.7% |
2/23 |
| Inverted nipples |
8.7% |
2/23 |
| Abnormality of the palmar creases |
4.3% |
1/23 |
| Concave nail |
4.3% |
1/23 |
| Congenital giant melanocytic nevus |
4.3% |
1/23 |
| Cutis marmorata |
4.3% |
1/23 |
| Hyperconvex nail |
4.3% |
1/23 |
| Localized hirsutism |
4.3% |
1/23 |
| Reduced subcutaneous adipose tissue |
4.3% |
1/23 |
| Thin nail |
4.3% |
1/23 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
4.2% |
1/24 |
| Elevated hepatic transaminases |
4.2% |
1/24 |
| Abnormality of the immune system |
36.8% |
7/19 |
| Recurrent otitis media |
21.1% |
4/19 |
| Allergy |
5.3% |
1/19 |
| Chronic otitis media |
5.3% |
1/19 |
| Recurrent sinusitis |
5.3% |
1/19 |
| Recurrent infections |
5.3% |
1/19 |