| Gender |
|
|
| Male |
43.9% |
18/41 |
| Female |
56.1% |
23/41 |
| General |
|
|
| Birth Length abnormalities |
20.7% |
6/29 |
| < P3 : Birth length less than 3rd percentile |
13.8% |
4/29 |
| > P98 : Birth length greater than 97th percentile |
6.9% |
2/29 |
| Birth Weight abnormalities |
30.0% |
9/30 |
| < P3 : Small for gestational age |
30.0% |
9/30 |
| Birth Head circumference abnormalities |
17.9% |
5/28 |
| < P3 : Primary microcephaly |
14.3% |
4/28 |
| > P98 : Macrocephaly at birth |
3.6% |
1/28 |
| Current Height abnormalities |
10.0% |
3/30 |
| < P3 : Short stature |
10.0% |
3/30 |
| Current Weight abnormalities |
16.1% |
5/31 |
| > P98 : Increased body weight |
9.7% |
3/31 |
| < P3 : Decreased body weight |
6.5% |
2/31 |
| Current Head circumference abnormalities |
17.2% |
5/29 |
| > P98 : Macrocephaly |
13.8% |
4/29 |
| < P3 : Microcephaly |
3.4% |
1/29 |
| Neurology |
|
|
| Neurological abnormalities |
82.1% |
32/39 |
| Hypotonia |
38.5% |
15/39 |
| Absent speech |
20.5% |
8/39 |
| Seizure |
15.4% |
6/39 |
| Inability to walk |
10.3% |
4/39 |
| Gait ataxia |
7.7% |
3/39 |
| Ataxia |
5.1% |
2/39 |
| Axial hypotonia |
5.1% |
2/39 |
| Generalized hypotonia |
5.1% |
2/39 |
| Intellectual disability |
5.1% |
2/39 |
| Limb hypertonia |
5.1% |
2/39 |
| Moderate global developmental delay |
5.1% |
2/39 |
| Muscle weakness |
5.1% |
2/39 |
| Neurodevelopmental delay |
5.1% |
2/39 |
| Postural instability |
5.1% |
2/39 |
| Abnormality of coordination |
2.6% |
1/39 |
| Broad-based gait |
2.6% |
1/39 |
| Chorea |
2.6% |
1/39 |
| Delayed fine motor development |
2.6% |
1/39 |
| Delayed speech and language development |
2.6% |
1/39 |
| Dystonia |
2.6% |
1/39 |
| Febrile seizure (within the age range of 3 months to 6 years) |
2.6% |
1/39 |
| Gait disturbance |
2.6% |
1/39 |
| Generalized non-motor (absence) seizure |
2.6% |
1/39 |
| Global developmental delay |
2.6% |
1/39 |
| Language impairment |
2.6% |
1/39 |
| Neonatal hypotonia |
2.6% |
1/39 |
| Neurodevelopmental abnormality |
2.6% |
1/39 |
| Nystagmus |
2.6% |
1/39 |
| obsolete Infantile axial hypotonia |
2.6% |
1/39 |
| obsolete Poor coordination |
2.6% |
1/39 |
| Severe muscular hypotonia |
2.6% |
1/39 |
| Spasticity |
2.6% |
1/39 |
| Spastic paraparesis |
2.6% |
1/39 |
| Speech apraxia |
2.6% |
1/39 |
| Behavioral problems |
35.9% |
14/39 |
| Aggressive behavior |
7.7% |
3/39 |
| Autism |
7.7% |
3/39 |
| Autistic behavior |
5.1% |
2/39 |
| Motor stereotypy |
5.1% |
2/39 |
| Abnormal drinking behavior |
2.6% |
1/39 |
| Abnormal eating behavior |
2.6% |
1/39 |
| Anxiety |
2.6% |
1/39 |
| Compulsive behaviors |
2.6% |
1/39 |
| Delayed speech and language development |
2.6% |
1/39 |
| Hyperactivity |
2.6% |
1/39 |
| Inappropriate laughter |
2.6% |
1/39 |
| obsolete Abnormal aggressive, impulsive or violent behavior |
2.6% |
1/39 |
| Polyphagia |
2.6% |
1/39 |
| Self-mutilation |
2.6% |
1/39 |
| Skin-picking |
2.6% |
1/39 |
| Sleep disturbance |
2.6% |
1/39 |
| Brain abnormality |
50.0% |
15/30 |
| Abnormal cerebral white matter morphology |
6.7% |
2/30 |
| Cerebral hypomyelination |
6.7% |
2/30 |
| Ventriculomegaly |
6.7% |
2/30 |
| Cavum septum pellucidum |
3.3% |
1/30 |
| Cerebral white matter hypoplasia |
3.3% |
1/30 |
| Cerebral atrophy |
3.3% |
1/30 |
| Cerebral cortical atrophy |
3.3% |
1/30 |
| Cystic lesions of the pinnae |
3.3% |
1/30 |
| Dandy-Walker malformation |
3.3% |
1/30 |
| Delayed myelination |
3.3% |
1/30 |
| Dilation of Virchow-Robin spaces |
3.3% |
1/30 |
| Hypoplasia of the corpus callosum |
3.3% |
1/30 |
| Lateral ventricle dilatation |
3.3% |
1/30 |
| Lateral ventricular asymmetry |
3.3% |
1/30 |
| Partial agenesis of the corpus callosum |
3.3% |
1/30 |
| Polymicrogyria |
3.3% |
1/30 |
| Punctate periventricular T2 hyperintense foci |
3.3% |
1/30 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
42.5% |
17/40 |
| Low-set ears |
22.5% |
9/40 |
| Large fleshy ears |
7.5% |
3/40 |
| Abnormal earlobe morphology |
5.0% |
2/40 |
| Anteverted ears |
5.0% |
2/40 |
| Preauricular pit |
5.0% |
2/40 |
| Large earlobe |
2.5% |
1/40 |
| Macrotia |
2.5% |
1/40 |
| Prominent ear helix |
2.5% |
1/40 |
| Prominent antihelix |
2.5% |
1/40 |
| Abnormality of the eye |
62.5% |
25/40 |
| Upslanted palpebral fissure |
25.0% |
10/40 |
| Horizontal eyebrow |
15.0% |
6/40 |
| Long eyelashes |
15.0% |
6/40 |
| Epicanthus |
12.5% |
5/40 |
| Downslanted palpebral fissures |
5.0% |
2/40 |
| Esotropia |
5.0% |
2/40 |
| Synophrys |
5.0% |
2/40 |
| Abnormal eyelid morphology |
2.5% |
1/40 |
| Bilateral microphthalmos |
2.5% |
1/40 |
| Bilateral ptosis |
2.5% |
1/40 |
| Blepharophimosis |
2.5% |
1/40 |
| Epicanthus inversus |
2.5% |
1/40 |
| Highly arched eyebrow |
2.5% |
1/40 |
| Hypertelorism |
2.5% |
1/40 |
| Hyperopic astigmatism |
2.5% |
1/40 |
| Hypotelorism |
2.5% |
1/40 |
| obsolete Prominent epicanthal folds |
2.5% |
1/40 |
| Ptosis |
2.5% |
1/40 |
| Short palpebral fissure |
2.5% |
1/40 |
| Strabismus |
2.5% |
1/40 |
| Telecanthus |
2.5% |
1/40 |
| Unilateral ptosis |
2.5% |
1/40 |
| Abnormality of the nose |
67.5% |
27/40 |
| Prominent nasal tip |
27.5% |
11/40 |
| Deep philtrum |
22.5% |
9/40 |
| Bulbous nose |
17.5% |
7/40 |
| Depressed nasal bridge |
17.5% |
7/40 |
| Abnormal external nose morphology |
2.5% |
1/40 |
| Low hanging columella |
2.5% |
1/40 |
| Prominent nose |
2.5% |
1/40 |
| Short nose |
2.5% |
1/40 |
| Short philtrum |
2.5% |
1/40 |
| Wide nose |
2.5% |
1/40 |
| Wide nasal bridge |
2.5% |
1/40 |
| Abnormality of the mouth |
80.0% |
32/40 |
| Open mouth |
42.5% |
17/40 |
| Exaggerated cupid's bow |
20.0% |
8/40 |
| Macroglossia |
15.0% |
6/40 |
| Thin vermilion border |
10.0% |
4/40 |
| Wide mouth |
10.0% |
4/40 |
| Mandibular prognathia |
7.5% |
3/40 |
| Protruding tongue |
7.5% |
3/40 |
| Short philtrum |
7.5% |
3/40 |
| Thin upper lip vermilion |
7.5% |
3/40 |
| Deep philtrum |
5.0% |
2/40 |
| Retrognathia |
5.0% |
2/40 |
| Abnormal upper lip morphology |
2.5% |
1/40 |
| Ankyloglossia |
2.5% |
1/40 |
| Drooling |
2.5% |
1/40 |
| High forehead |
2.5% |
1/40 |
| Movement abnormality of the tongue |
2.5% |
1/40 |
| Narrow forehead |
2.5% |
1/40 |
| Thick vermilion border |
2.5% |
1/40 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
10.3% |
4/39 |
| Conductive hearing impairment |
2.6% |
1/39 |
| Hearing impairment |
2.6% |
1/39 |
| Mild conductive hearing impairment |
2.6% |
1/39 |
| Abnormal vision |
35.9% |
14/39 |
| Astigmatism |
12.8% |
5/39 |
| Hypermetropia |
7.7% |
3/39 |
| Strabismus |
7.7% |
3/39 |
| Myopia |
5.1% |
2/39 |
| Alternating esotropia |
2.6% |
1/39 |
| Duane anomaly |
2.6% |
1/39 |
| High hypermetropia |
2.6% |
1/39 |
| Hyperopic astigmatism |
2.6% |
1/39 |
| Monocular strabismus |
2.6% |
1/39 |
| Ptosis |
2.6% |
1/39 |
| Heart |
|
|
| Abnormality of the heart |
20.0% |
8/40 |
| Tetralogy of Fallot |
7.5% |
3/40 |
| Patent foramen ovale |
5.0% |
2/40 |
| Pulmonary valve atresia |
5.0% |
2/40 |
| Ventricular septal defect |
5.0% |
2/40 |
| Cardiac total anomalous pulmonary venous connection |
2.5% |
1/40 |
| Primum atrial septal defect |
2.5% |
1/40 |
| Supracardiac total anomalous pulmonary venous connection |
2.5% |
1/40 |
| Pulmonary |
|
|
| Abnormality of the lungs |
23.1% |
3/13 |
| Recurrent bronchitis |
7.7% |
1/13 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
17.5% |
7/40 |
| Gastroesophageal reflux |
5.0% |
2/40 |
| Abdominal pain |
2.5% |
1/40 |
| Anteriorly placed anus |
2.5% |
1/40 |
| Constipation |
2.5% |
1/40 |
| Enterocolitis |
2.5% |
1/40 |
| Meckel diverticulum |
2.5% |
1/40 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
17.5% |
7/40 |
| Abnormal testis morphology |
2.5% |
1/40 |
| Abnormality of the kidney |
2.5% |
1/40 |
| Glanular hypospadias |
2.5% |
1/40 |
| Hydroureter |
2.5% |
1/40 |
| Unilateral cryptorchidism |
2.5% |
1/40 |
| Ureter duplex |
2.5% |
1/40 |
| Urinary incontinence |
2.5% |
1/40 |
| Skeleton |
|
|
| Skeletal abnormalities |
62.5% |
25/40 |
| Brachycephaly |
10.0% |
4/40 |
| Bilateral talipes equinovarus |
7.5% |
3/40 |
| Lumbar hyperlordosis |
7.5% |
3/40 |
| Talipes equinovarus |
7.5% |
3/40 |
| Metatarsus adductus |
5.0% |
2/40 |
| Overlapping toe |
5.0% |
2/40 |
| Sandal gap |
5.0% |
2/40 |
| Tapered finger |
5.0% |
2/40 |
| Bowing of the legs |
2.5% |
1/40 |
| Camptodactyly of finger |
2.5% |
1/40 |
| Clinodactyly of hallux |
2.5% |
1/40 |
| Clinodactyly of the 2nd toe |
2.5% |
1/40 |
| Clinodactyly |
2.5% |
1/40 |
| Congenital foot contraction deformities |
2.5% |
1/40 |
| Craniosynostosis |
2.5% |
1/40 |
| Cubitus valgus |
2.5% |
1/40 |
| Hip contracture |
2.5% |
1/40 |
| Joint hypermobility |
2.5% |
1/40 |
| Kyphoscoliosis |
2.5% |
1/40 |
| Long toe |
2.5% |
1/40 |
| Proximal placement of thumb |
2.5% |
1/40 |
| Scoliosis |
2.5% |
1/40 |
| Spinal canal stenosis |
2.5% |
1/40 |
| Thumb contracture |
2.5% |
1/40 |
| Toe clinodactyly |
2.5% |
1/40 |
| 3-5 toe syndactyly |
2.5% |
1/40 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
20.0% |
8/40 |
| Crusting erythematous dermatitis |
2.5% |
1/40 |
| Eczematoid dermatitis |
2.5% |
1/40 |
| High forehead |
2.5% |
1/40 |
| Inguinal hernia |
2.5% |
1/40 |
| Nevus |
2.5% |
1/40 |
| Supernumerary nipple |
2.5% |
1/40 |
| Sydney crease |
2.5% |
1/40 |
| Thick hair |
2.5% |
1/40 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
2.5% |
1/40 |
| Recurrent herpes |
2.5% |
1/40 |
| Neoplasia |
|
|
| Neoplasia |
7.5% |
3/40 |
| Acute lymphoblastic leukemia |
5.0% |
2/40 |