| Gender |
|
|
| Male |
47.2% |
17/36 |
| Female |
52.8% |
19/36 |
| General |
|
|
| Birth Length abnormalities |
20.8% |
5/24 |
| < P3 : Birth length less than 3rd percentile |
12.5% |
3/24 |
| > P98 : Birth length greater than 97th percentile |
8.3% |
2/24 |
| Birth Weight abnormalities |
28.0% |
7/25 |
| < P3 : Small for gestational age |
28.0% |
7/25 |
| Birth Head circumference abnormalities |
17.4% |
4/23 |
| < P3 : Congenital microcephaly |
13.0% |
3/23 |
| > P98 : Macrocephaly at birth |
4.3% |
1/23 |
| Current Height abnormalities |
12.0% |
3/25 |
| < P3 : Short stature |
12.0% |
3/25 |
| Current Weight abnormalities |
15.4% |
4/26 |
| > P98 : Increased body weight |
7.7% |
2/26 |
| < P3 : Decreased body weight |
7.7% |
2/26 |
| Current Head circumference abnormalities |
16.7% |
4/24 |
| > P98 : Macrocephaly |
12.5% |
3/24 |
| < P3 : Microcephaly |
4.2% |
1/24 |
| Neurology |
|
|
| Neurological abnormalities |
82.4% |
28/34 |
| Muscular hypotonia |
44.1% |
15/34 |
| Absent speech |
23.5% |
8/34 |
| Seizures |
14.7% |
5/34 |
| Inability to walk |
11.8% |
4/34 |
| Ataxia |
5.9% |
2/34 |
| Intellectual disability |
5.9% |
2/34 |
| Limb hypertonia |
5.9% |
2/34 |
| Moderate global developmental delay |
5.9% |
2/34 |
| Muscle weakness |
5.9% |
2/34 |
| Muscular hypotonia of the trunk |
5.9% |
2/34 |
| Neurodevelopmental delay |
5.9% |
2/34 |
| Abnormality of coordination |
2.9% |
1/34 |
| Absence seizures |
2.9% |
1/34 |
| Broad-based gait |
2.9% |
1/34 |
| Chorea |
2.9% |
1/34 |
| Delayed fine motor development |
2.9% |
1/34 |
| Delayed speech and language development |
2.9% |
1/34 |
| Dystonia |
2.9% |
1/34 |
| Febrile seizures |
2.9% |
1/34 |
| Gait disturbance |
2.9% |
1/34 |
| Gait ataxia |
2.9% |
1/34 |
| Generalized hypotonia |
2.9% |
1/34 |
| Global developmental delay |
2.9% |
1/34 |
| Language impairment |
2.9% |
1/34 |
| Neonatal hypotonia |
2.9% |
1/34 |
| Neurodevelopmental abnormality |
2.9% |
1/34 |
| Nystagmus |
2.9% |
1/34 |
| Poor coordination |
2.9% |
1/34 |
| Postural instability |
2.9% |
1/34 |
| Severe muscular hypotonia |
2.9% |
1/34 |
| Spastic paraparesis |
2.9% |
1/34 |
| Speech apraxia |
2.9% |
1/34 |
| Behavioral problems |
35.3% |
12/34 |
| Autism |
8.8% |
3/34 |
| Autistic behavior |
5.9% |
2/34 |
| Abnormal eating behavior |
2.9% |
1/34 |
| Abnormal drinking behavior |
2.9% |
1/34 |
| Abnormal aggressive, impulsive or violent behavior |
2.9% |
1/34 |
| Aggressive behavior |
2.9% |
1/34 |
| Delayed speech and language development |
2.9% |
1/34 |
| Hyperactivity |
2.9% |
1/34 |
| Inappropriate laughter |
2.9% |
1/34 |
| Sleep disturbance |
2.9% |
1/34 |
| Stereotypic behavior |
2.9% |
1/34 |
| Brain abnormality |
48.0% |
12/25 |
| Abnormality of the cerebral white matter |
8.0% |
2/25 |
| Ventriculomegaly |
8.0% |
2/25 |
| Cavum septum pellucidum |
4.0% |
1/25 |
| Cerebral atrophy |
4.0% |
1/25 |
| Cerebral cortical atrophy |
4.0% |
1/25 |
| Cerebral hypomyelination |
4.0% |
1/25 |
| Dandy-Walker malformation |
4.0% |
1/25 |
| Delayed myelination |
4.0% |
1/25 |
| Hypoplasia of the corpus callosum |
4.0% |
1/25 |
| Partial agenesis of the corpus callosum |
4.0% |
1/25 |
| Perivascular spaces |
4.0% |
1/25 |
| Polymicrogyria |
4.0% |
1/25 |
| Punctate periventricular T2 hyperintense foci |
4.0% |
1/25 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
40.0% |
14/35 |
| Low-set ears |
25.7% |
9/35 |
| Large fleshy ears |
8.6% |
3/35 |
| Abnormality of earlobe |
5.7% |
2/35 |
| Anteverted ears |
2.9% |
1/35 |
| Large earlobe |
2.9% |
1/35 |
| Macrotia |
2.9% |
1/35 |
| Preauricular pit |
2.9% |
1/35 |
| Abnormality of the eye |
60.0% |
21/35 |
| Upslanted palpebral fissure |
25.7% |
9/35 |
| Long eyelashes |
14.3% |
5/35 |
| Horizontal eyebrow |
11.4% |
4/35 |
| Epicanthus |
8.6% |
3/35 |
| Downslanted palpebral fissures |
5.7% |
2/35 |
| Abnormality of the eyelid |
2.9% |
1/35 |
| Bilateral microphthalmos |
2.9% |
1/35 |
| Bilateral ptosis |
2.9% |
1/35 |
| Blepharophimosis |
2.9% |
1/35 |
| Epicanthus inversus |
2.9% |
1/35 |
| Esotropia |
2.9% |
1/35 |
| Highly arched eyebrow |
2.9% |
1/35 |
| Hypertelorism |
2.9% |
1/35 |
| Hyperopic astigmatism |
2.9% |
1/35 |
| Prominent epicanthal folds |
2.9% |
1/35 |
| Ptosis |
2.9% |
1/35 |
| Short palpebral fissure |
2.9% |
1/35 |
| Strabismus |
2.9% |
1/35 |
| Synophrys |
2.9% |
1/35 |
| Unilateral ptosis |
2.9% |
1/35 |
| Abnormality of the nose |
65.7% |
23/35 |
| Prominent nasal tip |
31.4% |
11/35 |
| Deep philtrum |
25.7% |
9/35 |
| Bulbous nose |
17.1% |
6/35 |
| Depressed nasal bridge |
14.3% |
5/35 |
| Abnormality of the external nose |
2.9% |
1/35 |
| Prominent nose |
2.9% |
1/35 |
| Short philtrum |
2.9% |
1/35 |
| Short nose |
2.9% |
1/35 |
| Wide nasal bridge |
2.9% |
1/35 |
| Wide nose |
2.9% |
1/35 |
| Abnormality of the mouth |
77.1% |
27/35 |
| Open mouth |
45.7% |
16/35 |
| Exaggerated cupid's bow |
20.0% |
7/35 |
| Macroglossia |
11.4% |
4/35 |
| Thin vermilion border |
11.4% |
4/35 |
| Protruding tongue |
8.6% |
3/35 |
| Wide mouth |
8.6% |
3/35 |
| Thin upper lip vermilion |
5.7% |
2/35 |
| Abnormality of upper lip |
2.9% |
1/35 |
| Ankyloglossia |
2.9% |
1/35 |
| Deep philtrum |
2.9% |
1/35 |
| High forehead |
2.9% |
1/35 |
| Mandibular prognathia |
2.9% |
1/35 |
| Movement abnormality of the tongue |
2.9% |
1/35 |
| Narrow forehead |
2.9% |
1/35 |
| Short philtrum |
2.9% |
1/35 |
| Thick vermilion border |
2.9% |
1/35 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
8.8% |
3/34 |
| Hearing impairment |
2.9% |
1/34 |
| Mild conductive hearing impairment |
2.9% |
1/34 |
| Abnormal vision |
32.4% |
11/34 |
| Hypermetropia |
8.8% |
3/34 |
| Strabismus |
8.8% |
3/34 |
| Astigmatism |
5.9% |
2/34 |
| Alternating esotropia |
2.9% |
1/34 |
| Duane anomaly |
2.9% |
1/34 |
| High-grade hypermetropia |
2.9% |
1/34 |
| Hyperopic astigmatism |
2.9% |
1/34 |
| Myopia |
2.9% |
1/34 |
| Heart |
|
|
| Abnormality of the heart |
20.0% |
7/35 |
| Tetralogy of Fallot |
8.6% |
3/35 |
| Patent foramen ovale |
5.7% |
2/35 |
| Pulmonary valve atresia |
5.7% |
2/35 |
| Ventricular septal defect |
5.7% |
2/35 |
| Cardiac total anomalous pulmonary venous connection |
2.9% |
1/35 |
| Supracardiac total anomalous pulmonary venous connection |
2.9% |
1/35 |
| Pulmonary |
|
|
| Abnormality of the lungs |
37.5% |
3/8 |
| Recurrent bronchitis |
12.5% |
1/8 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
20.0% |
7/35 |
| Gastroesophageal reflux |
5.7% |
2/35 |
| Abdominal pain |
2.9% |
1/35 |
| Anteriorly placed anus |
2.9% |
1/35 |
| Constipation |
2.9% |
1/35 |
| Enterocolitis |
2.9% |
1/35 |
| Meckel diverticulum |
2.9% |
1/35 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
17.1% |
6/35 |
| Abnormality of the kidney |
2.9% |
1/35 |
| Abnormality of the testis |
2.9% |
1/35 |
| Glandular hypospadias |
2.9% |
1/35 |
| Hydroureter |
2.9% |
1/35 |
| Unilateral cryptorchidism |
2.9% |
1/35 |
| Ureter duplex |
2.9% |
1/35 |
| Skeleton |
|
|
| Skeletal abnormalities |
65.7% |
23/35 |
| Brachycephaly |
11.4% |
4/35 |
| Bilateral talipes equinovarus |
8.6% |
3/35 |
| Talipes equinovarus |
8.6% |
3/35 |
| Lumbar hyperlordosis |
5.7% |
2/35 |
| Metatarsus adductus |
5.7% |
2/35 |
| Overlapping toe |
5.7% |
2/35 |
| Sandal gap |
5.7% |
2/35 |
| Bowing of the legs |
2.9% |
1/35 |
| Camptodactyly of finger |
2.9% |
1/35 |
| Clinodactyly |
2.9% |
1/35 |
| Congenital foot contraction deformities |
2.9% |
1/35 |
| Craniosynostosis |
2.9% |
1/35 |
| Flexion contracture of thumb |
2.9% |
1/35 |
| Hip contracture |
2.9% |
1/35 |
| Joint hypermobility |
2.9% |
1/35 |
| Kyphoscoliosis |
2.9% |
1/35 |
| Long toe |
2.9% |
1/35 |
| Scoliosis |
2.9% |
1/35 |
| Spinal canal stenosis |
2.9% |
1/35 |
| Tapered finger |
2.9% |
1/35 |
| Toe clinodactyly |
2.9% |
1/35 |
| 3-5 toe syndactyly |
2.9% |
1/35 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
22.9% |
8/35 |
| Crusting erythematous dermatitis |
2.9% |
1/35 |
| Eczema |
2.9% |
1/35 |
| High forehead |
2.9% |
1/35 |
| Inguinal hernia |
2.9% |
1/35 |
| Nevus |
2.9% |
1/35 |
| Supernumerary nipple |
2.9% |
1/35 |
| Sydney crease |
2.9% |
1/35 |
| Thick hair |
2.9% |
1/35 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
2.9% |
1/35 |
| Susceptibility to herpesvirus |
2.9% |
1/35 |
| Neoplasia |
|
|
| Neoplasia |
5.7% |
2/35 |
| Acute lymphoblastic leukemia |
2.9% |
1/35 |