| Gender |
|
|
| Male |
65.7% |
23/35 |
| Female |
34.3% |
12/35 |
| General |
|
|
| Birth Length abnormalities |
2.9% |
1/35 |
| < P3 : Birth length less than 3rd percentile |
2.9% |
1/35 |
| Birth Weight abnormalities |
5.7% |
2/35 |
| < P3 : Small for gestational age |
5.7% |
2/35 |
| Birth Head circumference abnormalities |
2.9% |
1/35 |
| > P98 : Macrocephaly at birth |
2.9% |
1/35 |
| Current Height abnormalities |
28.6% |
10/35 |
| < P3 : Short stature |
28.6% |
10/35 |
| Current Weight abnormalities |
20.0% |
7/35 |
| > P98 : Increased body weight |
2.9% |
1/35 |
| < P3 : Decreased body weight |
17.1% |
6/35 |
| Current Head circumference abnormalities |
25.7% |
9/35 |
| > P98 : Macrocephaly |
22.9% |
8/35 |
| < P3 : Microcephaly |
2.9% |
1/35 |
| Neurology |
|
|
| Neurological abnormalities |
75.0% |
24/32 |
| Muscular hypotonia |
46.9% |
15/32 |
| Flexion contracture |
21.9% |
7/32 |
| Spasticity |
21.9% |
7/32 |
| Hypertonia |
15.6% |
5/32 |
| Seizures |
9.4% |
3/32 |
| Dysarthria |
6.3% |
2/32 |
| Gait disturbance |
6.3% |
2/32 |
| Gait imbalance |
6.3% |
2/32 |
| Hyperreflexia |
6.3% |
2/32 |
| Abnormality of movement |
3.1% |
1/32 |
| Broad-based gait |
3.1% |
1/32 |
| Central hypotonia |
3.1% |
1/32 |
| Cerebral palsy |
3.1% |
1/32 |
| Clumsiness |
3.1% |
1/32 |
| Delayed gross motor development |
3.1% |
1/32 |
| EEG abnormality |
3.1% |
1/32 |
| Hyporeflexia |
3.1% |
1/32 |
| Language impairment |
3.1% |
1/32 |
| Muscle stiffness |
3.1% |
1/32 |
| Neurodevelopmental delay |
3.1% |
1/32 |
| Poor motor coordination |
3.1% |
1/32 |
| Spina bifida occulta |
3.1% |
1/32 |
| Visual hallucinations |
3.1% |
1/32 |
| Behavioral problems |
97.1% |
34/35 |
| Autistic behavior |
45.7% |
16/35 |
| Behavioral abnormality |
40.0% |
14/35 |
| Speech articulation difficulties |
34.3% |
12/35 |
| Absent speech |
28.6% |
10/35 |
| Oromotor apraxia |
25.7% |
9/35 |
| Aggressive behavior |
14.3% |
5/35 |
| Attention deficit hyperactivity disorder |
11.4% |
4/35 |
| Obsessive-compulsive behavior |
11.4% |
4/35 |
| Stereotypic behavior |
11.4% |
4/35 |
| Anxiety |
5.7% |
2/35 |
| Autism |
5.7% |
2/35 |
| Short attention span |
5.7% |
2/35 |
| Abnormal pattern of respiration |
2.9% |
1/35 |
| Borderline personality disorder |
2.9% |
1/35 |
| Echolalia |
2.9% |
1/35 |
| Emotional lability |
2.9% |
1/35 |
| Hyperacusis |
2.9% |
1/35 |
| Hyperactivity |
2.9% |
1/35 |
| Impaired social interactions |
2.9% |
1/35 |
| Impulsivity |
2.9% |
1/35 |
| Inflexible adherence to routines or rituals |
2.9% |
1/35 |
| Perseveration |
2.9% |
1/35 |
| Pica |
2.9% |
1/35 |
| Poor eye contact |
2.9% |
1/35 |
| Repetitive compulsive behavior |
2.9% |
1/35 |
| Restrictive behavior |
2.9% |
1/35 |
| Self-biting |
2.9% |
1/35 |
| Self-injurious behavior |
2.9% |
1/35 |
| Sleep disturbance |
2.9% |
1/35 |
| Brain abnormality |
58.6% |
17/29 |
| Hypoplasia of the corpus callosum |
10.3% |
3/29 |
| Abnormality of the cerebral ventricles |
3.4% |
1/29 |
| Abnormality of the cerebral white matter |
3.4% |
1/29 |
| Arachnoid cyst |
3.4% |
1/29 |
| Cerebral venous angioma |
3.4% |
1/29 |
| Cerebral atrophy |
3.4% |
1/29 |
| Dilation of lateral ventricles |
3.4% |
1/29 |
| Enlarged cisterna magna |
3.4% |
1/29 |
| Periventricular leukomalacia |
3.4% |
1/29 |
| Widened subarachnoid space |
3.4% |
1/29 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
35.3% |
12/34 |
| Abnormality of the helix |
11.8% |
4/34 |
| Low-set ears |
5.9% |
2/34 |
| Small earlobe |
5.9% |
2/34 |
| Large earlobe |
2.9% |
1/34 |
| Overfolding of the superior helices |
2.9% |
1/34 |
| Periauricular skin pits |
2.9% |
1/34 |
| Preauricular pit |
2.9% |
1/34 |
| Abnormality of the eye |
85.3% |
29/34 |
| Downslanted palpebral fissures |
55.9% |
19/34 |
| Ptosis |
52.9% |
18/34 |
| Hypertelorism |
41.2% |
14/34 |
| Blepharophimosis |
14.7% |
5/34 |
| Epicanthus |
5.9% |
2/34 |
| Short palpebral fissure |
5.9% |
2/34 |
| Almond-shaped palpebral fissure |
2.9% |
1/34 |
| Deeply set eye |
2.9% |
1/34 |
| Microphthalmia |
2.9% |
1/34 |
| Sparse lateral eyebrow |
2.9% |
1/34 |
| Unilateral strabismus |
2.9% |
1/34 |
| Upslanted palpebral fissure |
2.9% |
1/34 |
| Abnormality of the nose |
88.2% |
30/34 |
| Broad nasal tip |
67.6% |
23/34 |
| Short nose |
50.0% |
17/34 |
| Prominent nasolabial fold |
29.4% |
10/34 |
| Wide nasal bridge |
5.9% |
2/34 |
| Anteverted nares |
2.9% |
1/34 |
| Depressed nasal bridge |
2.9% |
1/34 |
| Wide nasal base |
2.9% |
1/34 |
| Abnormality of the mouth |
79.4% |
27/34 |
| Thick vermilion border |
47.1% |
16/34 |
| Open mouth |
41.2% |
14/34 |
| Wide mouth |
41.2% |
14/34 |
| Downturned corners of mouth |
38.2% |
13/34 |
| Mandibular prognathia |
20.6% |
7/34 |
| Dental malocclusion |
11.8% |
4/34 |
| High palate |
5.9% |
2/34 |
| Thin upper lip vermilion |
5.9% |
2/34 |
| Abnormality of the incisor |
2.9% |
1/34 |
| Abnormality of dental morphology |
2.9% |
1/34 |
| Chin with horizontal crease |
2.9% |
1/34 |
| Everted upper lip vermilion |
2.9% |
1/34 |
| Everted lower lip vermilion |
2.9% |
1/34 |
| Long philtrum |
2.9% |
1/34 |
| Narrow mouth |
2.9% |
1/34 |
| Open bite |
2.9% |
1/34 |
| Protruding tongue |
2.9% |
1/34 |
| Retrognathia |
2.9% |
1/34 |
| Smooth philtrum |
2.9% |
1/34 |
| Tented philtrum |
2.9% |
1/34 |
| Tented upper lip vermilion |
2.9% |
1/34 |
| U-Shaped upper lip vermilion |
2.9% |
1/34 |
| Widely-spaced incisors |
2.9% |
1/34 |
| Widely spaced teeth |
2.9% |
1/34 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
65.6% |
21/32 |
| Strabismus |
53.1% |
17/32 |
| Hypermetropia |
31.3% |
10/32 |
| Nystagmus |
6.3% |
2/32 |
| Amblyopia |
3.1% |
1/32 |
| Duane anomaly |
3.1% |
1/32 |
| Esotropia |
3.1% |
1/32 |
| Optic nerve hypoplasia |
3.1% |
1/32 |
| Pendular nystagmus |
3.1% |
1/32 |
| Heart |
|
|
| Abnormality of the heart |
28.6% |
8/28 |
| Atria septal defect |
10.7% |
3/28 |
| Secundum atrial septal defect |
7.1% |
2/28 |
| Abnormality of the tricuspid valve |
3.6% |
1/28 |
| Abnormality of the atrial septum |
3.6% |
1/28 |
| Dilatation of the aortic arch |
3.6% |
1/28 |
| Dysplastic tricuspid valve |
3.6% |
1/28 |
| Patent ductus arteriosus |
3.6% |
1/28 |
| Patent foramen ovale |
3.6% |
1/28 |
| Pulmonary |
|
|
| Abnormality of the lungs |
6.1% |
2/33 |
| Aspiration pneumonia |
3.0% |
1/33 |
| Asthma |
3.0% |
1/33 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
11.8% |
4/34 |
| Anal fistula |
2.9% |
1/34 |
| Biliary tract abnormality |
2.9% |
1/34 |
| Cholestasis |
2.9% |
1/34 |
| Chronic hepatitis |
2.9% |
1/34 |
| Hepatic fibrosis |
2.9% |
1/34 |
| Hypoperistalsis |
2.9% |
1/34 |
| Neonatal cholestatic liver disease |
2.9% |
1/34 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
35.5% |
11/31 |
| Bilateral cryptorchidism |
12.9% |
4/31 |
| Cryptorchidism |
9.7% |
3/31 |
| Abnormal renal morphology |
6.5% |
2/31 |
| Unilateral cryptorchidism |
6.5% |
2/31 |
| Abnormality of the urinary system |
3.2% |
1/31 |
| Renal duplication |
3.2% |
1/31 |
| Scrotal hypoplasia |
3.2% |
1/31 |
| Ureterocele |
3.2% |
1/31 |
| Urinary incontinence |
3.2% |
1/31 |
| Skeleton |
|
|
| Skeletal abnormalities |
34.3% |
12/35 |
| Clinodactyly |
17.1% |
6/35 |
| Camptodactyly |
5.7% |
2/35 |
| Knee flexion contracture |
5.7% |
2/35 |
| Overlapping fingers |
5.7% |
2/35 |
| Adducted thumb |
2.9% |
1/35 |
| Congenital contracture |
2.9% |
1/35 |
| Congenital hip dislocation |
2.9% |
1/35 |
| Elbow flexion contracture |
2.9% |
1/35 |
| Excessive femoral anteversion |
2.9% |
1/35 |
| Flexion contracture |
2.9% |
1/35 |
| Hand clenching |
2.9% |
1/35 |
| Joint hypermobility |
2.9% |
1/35 |
| Limited elbow extension |
2.9% |
1/35 |
| Limitation of movement at ankles |
2.9% |
1/35 |
| Limited knee extension |
2.9% |
1/35 |
| Metatarsus adductus |
2.9% |
1/35 |
| Scoliosis |
2.9% |
1/35 |
| Small hand |
2.9% |
1/35 |
| Syndactyly |
2.9% |
1/35 |
| Talipes cavus equinovarus |
2.9% |
1/35 |
| Talipes equinovarus |
2.9% |
1/35 |
| Toe clinodactyly |
2.9% |
1/35 |
| Ulnar deviation of the hand |
2.9% |
1/35 |
| Ulnar deviation of the hand or of fingers of the hand |
2.9% |
1/35 |
| Valgus foot deformity |
2.9% |
1/35 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
60.0% |
21/35 |
| Frontal upsweep of hair |
31.4% |
11/35 |
| Single transverse palmar crease |
25.7% |
9/35 |
| Prominent fingertip pads |
11.4% |
4/35 |
| Sacral dimple |
5.7% |
2/35 |
| Facial hemangioma |
2.9% |
1/35 |
| Hemangioma |
2.9% |
1/35 |
| Localized skin lesion |
2.9% |
1/35 |
| Nail dystrophy |
2.9% |
1/35 |
| Wide intermamillary distance |
2.9% |
1/35 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
2.9% |
1/34 |
| Hypothyroidism |
2.9% |
1/34 |
| Abnormality of the metabolic system |
2.9% |
1/34 |
| Hyperbilirubinemia |
2.9% |
1/34 |
| Abnormality of the immune system |
17.6% |
6/34 |
| Abnormality of immune system physiology |
2.9% |
1/34 |
| Fever |
2.9% |
1/34 |
| Meningitis |
2.9% |
1/34 |
| Recurrent urinary tract infections |
2.9% |
1/34 |
| Recurrent infections |
2.9% |
1/34 |
| Recurrent otitis media |
2.9% |
1/34 |
| Recurrent skin infections |
2.9% |
1/34 |
| Recurrent upper respiratory tract infections |
2.9% |
1/34 |