| Gender |
|
|
| Male |
63.6% |
21/33 |
| Female |
36.4% |
12/33 |
| General |
|
|
| Birth Length abnormalities |
3.0% |
1/33 |
| < P3 : Birth length less than 3rd percentile |
3.0% |
1/33 |
| Birth Weight abnormalities |
6.1% |
2/33 |
| < P3 : Small for gestational age |
6.1% |
2/33 |
| Birth Head circumference abnormalities |
3.0% |
1/33 |
| > P98 : Macrocephaly at birth |
3.0% |
1/33 |
| Current Height abnormalities |
27.3% |
9/33 |
| < P3 : Short stature |
27.3% |
9/33 |
| Current Weight abnormalities |
18.2% |
6/33 |
| < P3 : Decreased body weight |
18.2% |
6/33 |
| Current Head circumference abnormalities |
27.3% |
9/33 |
| > P98 : Macrocephaly |
24.2% |
8/33 |
| < P3 : Microcephaly |
3.0% |
1/33 |
| Neurology |
|
|
| Neurological abnormalities |
76.7% |
23/30 |
| Muscular hypotonia |
50.0% |
15/30 |
| Flexion contracture |
23.3% |
7/30 |
| Spasticity |
23.3% |
7/30 |
| Hypertonia |
16.7% |
5/30 |
| Seizures |
10.0% |
3/30 |
| Dysarthria |
6.7% |
2/30 |
| Gait disturbance |
6.7% |
2/30 |
| Gait imbalance |
6.7% |
2/30 |
| Hyperreflexia |
6.7% |
2/30 |
| Abnormality of movement |
3.3% |
1/30 |
| Broad-based gait |
3.3% |
1/30 |
| Central hypotonia |
3.3% |
1/30 |
| Cerebral palsy |
3.3% |
1/30 |
| Clumsiness |
3.3% |
1/30 |
| Delayed gross motor development |
3.3% |
1/30 |
| Hyporeflexia |
3.3% |
1/30 |
| Language impairment |
3.3% |
1/30 |
| Muscle stiffness |
3.3% |
1/30 |
| Neurodevelopmental delay |
3.3% |
1/30 |
| Spina bifida occulta |
3.3% |
1/30 |
| Visual hallucinations |
3.3% |
1/30 |
| Behavioral problems |
97.0% |
32/33 |
| Autistic behavior |
48.5% |
16/33 |
| Behavioral abnormality |
42.4% |
14/33 |
| Speech articulation difficulties |
36.4% |
12/33 |
| Absent speech |
27.3% |
9/33 |
| Oromotor apraxia |
27.3% |
9/33 |
| Obsessive-compulsive behavior |
12.1% |
4/33 |
| Stereotypic behavior |
12.1% |
4/33 |
| Aggressive behavior |
9.1% |
3/33 |
| Attention deficit hyperactivity disorder |
9.1% |
3/33 |
| Anxiety |
6.1% |
2/33 |
| Short attention span |
6.1% |
2/33 |
| Abnormal pattern of respiration |
3.0% |
1/33 |
| Autism |
3.0% |
1/33 |
| Borderline personality disorder |
3.0% |
1/33 |
| Echolalia |
3.0% |
1/33 |
| Hyperacusis |
3.0% |
1/33 |
| Impaired social interactions |
3.0% |
1/33 |
| Impulsivity |
3.0% |
1/33 |
| Inflexible adherence to routines or rituals |
3.0% |
1/33 |
| Perseveration |
3.0% |
1/33 |
| Poor eye contact |
3.0% |
1/33 |
| Repetitive compulsive behavior |
3.0% |
1/33 |
| Restrictive behavior |
3.0% |
1/33 |
| Self-biting |
3.0% |
1/33 |
| Sleep disturbance |
3.0% |
1/33 |
| Brain abnormality |
63.0% |
17/27 |
| Hypoplasia of the corpus callosum |
11.1% |
3/27 |
| Abnormality of the cerebral ventricles |
3.7% |
1/27 |
| Abnormality of the cerebral white matter |
3.7% |
1/27 |
| Arachnoid cyst |
3.7% |
1/27 |
| Cerebral venous angioma |
3.7% |
1/27 |
| Cerebral atrophy |
3.7% |
1/27 |
| Dilation of lateral ventricles |
3.7% |
1/27 |
| Enlarged cisterna magna |
3.7% |
1/27 |
| Periventricular leukomalacia |
3.7% |
1/27 |
| Widened subarachnoid space |
3.7% |
1/27 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
34.4% |
11/32 |
| Abnormality of the helix |
12.5% |
4/32 |
| Low-set ears |
6.3% |
2/32 |
| Large earlobe |
3.1% |
1/32 |
| Overfolding of the superior helices |
3.1% |
1/32 |
| Periauricular skin pits |
3.1% |
1/32 |
| Preauricular pit |
3.1% |
1/32 |
| Small earlobe |
3.1% |
1/32 |
| Abnormality of the eye |
87.5% |
28/32 |
| Downslanted palpebral fissures |
56.3% |
18/32 |
| Ptosis |
53.1% |
17/32 |
| Hypertelorism |
43.8% |
14/32 |
| Blepharophimosis |
15.6% |
5/32 |
| Epicanthus |
6.3% |
2/32 |
| Short palpebral fissure |
6.3% |
2/32 |
| Almond-shaped palpebral fissure |
3.1% |
1/32 |
| Deeply set eye |
3.1% |
1/32 |
| Microphthalmia |
3.1% |
1/32 |
| Sparse lateral eyebrow |
3.1% |
1/32 |
| Unilateral strabismus |
3.1% |
1/32 |
| Upslanted palpebral fissure |
3.1% |
1/32 |
| Abnormality of the nose |
90.6% |
29/32 |
| Broad nasal tip |
68.8% |
22/32 |
| Short nose |
53.1% |
17/32 |
| Prominent nasolabial fold |
31.3% |
10/32 |
| Wide nasal bridge |
6.3% |
2/32 |
| Anteverted nares |
3.1% |
1/32 |
| Depressed nasal bridge |
3.1% |
1/32 |
| Wide nasal base |
3.1% |
1/32 |
| Abnormality of the mouth |
81.3% |
26/32 |
| Thick vermilion border |
46.9% |
15/32 |
| Wide mouth |
43.8% |
14/32 |
| Downturned corners of mouth |
40.6% |
13/32 |
| Open mouth |
40.6% |
13/32 |
| Mandibular prognathia |
21.9% |
7/32 |
| Dental malocclusion |
9.4% |
3/32 |
| High palate |
6.3% |
2/32 |
| Thin upper lip vermilion |
6.3% |
2/32 |
| Abnormality of the incisor |
3.1% |
1/32 |
| Chin with horizontal crease |
3.1% |
1/32 |
| Everted lower lip vermilion |
3.1% |
1/32 |
| Everted upper lip vermilion |
3.1% |
1/32 |
| Long philtrum |
3.1% |
1/32 |
| Narrow mouth |
3.1% |
1/32 |
| Protruding tongue |
3.1% |
1/32 |
| Retrognathia |
3.1% |
1/32 |
| Smooth philtrum |
3.1% |
1/32 |
| Tented philtrum |
3.1% |
1/32 |
| Tented upper lip vermilion |
3.1% |
1/32 |
| U-Shaped upper lip vermilion |
3.1% |
1/32 |
| Widely spaced teeth |
3.1% |
1/32 |
| Widely-spaced incisors |
3.1% |
1/32 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
70.0% |
21/30 |
| Strabismus |
56.7% |
17/30 |
| Hypermetropia |
33.3% |
10/30 |
| Nystagmus |
6.7% |
2/30 |
| Amblyopia |
3.3% |
1/30 |
| Duane anomaly |
3.3% |
1/30 |
| Esotropia |
3.3% |
1/30 |
| Optic nerve hypoplasia |
3.3% |
1/30 |
| Pendular nystagmus |
3.3% |
1/30 |
| Heart |
|
|
| Abnormality of the heart |
30.8% |
8/26 |
| Atria septal defect |
11.5% |
3/26 |
| Secundum atrial septal defect |
7.7% |
2/26 |
| Abnormality of the tricuspid valve |
3.8% |
1/26 |
| Abnormality of the atrial septum |
3.8% |
1/26 |
| Dilatation of the aortic arch |
3.8% |
1/26 |
| Dysplastic tricuspid valve |
3.8% |
1/26 |
| Patent foramen ovale |
3.8% |
1/26 |
| Patent ductus arteriosus |
3.8% |
1/26 |
| Pulmonary |
|
|
| Abnormality of the lungs |
6.5% |
2/31 |
| Aspiration pneumonia |
3.2% |
1/31 |
| Asthma |
3.2% |
1/31 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
12.5% |
4/32 |
| Anal fistula |
3.1% |
1/32 |
| Biliary tract abnormality |
3.1% |
1/32 |
| Cholestasis |
3.1% |
1/32 |
| Chronic hepatitis |
3.1% |
1/32 |
| Hepatic fibrosis |
3.1% |
1/32 |
| Hypoperistalsis |
3.1% |
1/32 |
| Neonatal cholestatic liver disease |
3.1% |
1/32 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
37.9% |
11/29 |
| Bilateral cryptorchidism |
13.8% |
4/29 |
| Cryptorchidism |
10.3% |
3/29 |
| Abnormal renal morphology |
6.9% |
2/29 |
| Unilateral cryptorchidism |
6.9% |
2/29 |
| Abnormality of the urinary system |
3.4% |
1/29 |
| Renal duplication |
3.4% |
1/29 |
| Scrotal hypoplasia |
3.4% |
1/29 |
| Ureterocele |
3.4% |
1/29 |
| Urinary incontinence |
3.4% |
1/29 |
| Skeleton |
|
|
| Skeletal abnormalities |
36.4% |
12/33 |
| Clinodactyly |
18.2% |
6/33 |
| Camptodactyly |
6.1% |
2/33 |
| Knee flexion contracture |
6.1% |
2/33 |
| Overlapping fingers |
6.1% |
2/33 |
| Adducted thumb |
3.0% |
1/33 |
| Congenital hip dislocation |
3.0% |
1/33 |
| Congenital contracture |
3.0% |
1/33 |
| Elbow flexion contracture |
3.0% |
1/33 |
| Excessive femoral anteversion |
3.0% |
1/33 |
| Flexion contracture |
3.0% |
1/33 |
| Hand clenching |
3.0% |
1/33 |
| Joint hypermobility |
3.0% |
1/33 |
| Limitation of movement at ankles |
3.0% |
1/33 |
| Limited knee extension |
3.0% |
1/33 |
| Limited elbow extension |
3.0% |
1/33 |
| Metatarsus adductus |
3.0% |
1/33 |
| Scoliosis |
3.0% |
1/33 |
| Small hand |
3.0% |
1/33 |
| Syndactyly |
3.0% |
1/33 |
| Talipes equinovarus |
3.0% |
1/33 |
| Talipes cavus equinovarus |
3.0% |
1/33 |
| Toe clinodactyly |
3.0% |
1/33 |
| Ulnar deviation of the hand or of fingers of the hand |
3.0% |
1/33 |
| Ulnar deviation of the hand |
3.0% |
1/33 |
| Valgus foot deformity |
3.0% |
1/33 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
63.6% |
21/33 |
| Frontal upsweep of hair |
33.3% |
11/33 |
| Single transverse palmar crease |
27.3% |
9/33 |
| Prominent fingertip pads |
12.1% |
4/33 |
| Sacral dimple |
6.1% |
2/33 |
| Facial hemangioma |
3.0% |
1/33 |
| Hemangioma |
3.0% |
1/33 |
| Localized skin lesion |
3.0% |
1/33 |
| Nail dystrophy |
3.0% |
1/33 |
| Wide intermamillary distance |
3.0% |
1/33 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
3.1% |
1/32 |
| Hypothyroidism |
3.1% |
1/32 |
| Abnormality of the metabolic system |
3.1% |
1/32 |
| Hyperbilirubinemia |
3.1% |
1/32 |
| Abnormality of the immune system |
18.8% |
6/32 |
| Abnormality of immune system physiology |
3.1% |
1/32 |
| Fever |
3.1% |
1/32 |
| Meningitis |
3.1% |
1/32 |
| Recurrent otitis media |
3.1% |
1/32 |
| Recurrent upper respiratory tract infections |
3.1% |
1/32 |
| Recurrent infections |
3.1% |
1/32 |
| Recurrent skin infections |
3.1% |
1/32 |
| Recurrent urinary tract infections |
3.1% |
1/32 |