| Gender |
|
|
| Male |
42.1% |
8/19 |
| Female |
57.9% |
11/19 |
| General |
|
|
| Birth Length abnormalities |
22.2% |
2/9 |
| < P3 : Birth length less than 3rd percentile |
11.1% |
1/9 |
| > P98 : Birth length greater than 97th percentile |
11.1% |
1/9 |
| Birth Weight abnormalities |
23.5% |
4/17 |
| < P3 : Small for gestational age |
17.6% |
3/17 |
| > P98 : Large for gestational age |
5.9% |
1/17 |
| Birth Head circumference abnormalities |
12.5% |
1/8 |
| > P98 : Macrocephaly at birth |
12.5% |
1/8 |
| Current Height abnormalities |
27.8% |
5/18 |
| < P3 : Short stature |
22.2% |
4/18 |
| > P98 : Tall stature |
5.6% |
1/18 |
| Current Weight abnormalities |
41.2% |
7/17 |
| < P3 : Decreased body weight |
29.4% |
5/17 |
| > P98 : Increased body weight |
11.8% |
2/17 |
| Current Head circumference abnormalities |
10.0% |
2/20 |
| < P3 : Microcephaly |
10.0% |
2/20 |
| Neurology |
|
|
| Neurological abnormalities |
72.2% |
13/18 |
| Dystonia |
16.7% |
3/18 |
| Muscular hypotonia |
16.7% |
3/18 |
| Delayed speech and language development |
5.6% |
1/18 |
| Delayed fine motor development |
5.6% |
1/18 |
| Distal lower limb amyotrophy |
5.6% |
1/18 |
| Entrapment neuropathy |
5.6% |
1/18 |
| Febrile seizures |
5.6% |
1/18 |
| Generalized tonic seizures |
5.6% |
1/18 |
| Macrocephaly |
5.6% |
1/18 |
| Neonatal hypotonia |
5.6% |
1/18 |
| Seizures |
5.6% |
1/18 |
| Specific learning disability |
5.6% |
1/18 |
| Stridor |
5.6% |
1/18 |
| Toe walking |
5.6% |
1/18 |
| Torticollis |
5.6% |
1/18 |
| Tremor |
5.6% |
1/18 |
| Unsteady gait |
5.6% |
1/18 |
| Waddling gait |
5.6% |
1/18 |
| Behavioral problems |
61.1% |
11/18 |
| Anxiety |
16.7% |
3/18 |
| Attention deficit hyperactivity disorder |
16.7% |
3/18 |
| Autism |
11.1% |
2/18 |
| Sleep disturbance |
11.1% |
2/18 |
| Global developmental delay |
5.6% |
1/18 |
| Low frustration tolerance |
5.6% |
1/18 |
| Short attention span |
5.6% |
1/18 |
| Stereotypic behavior |
5.6% |
1/18 |
| Brain abnormality |
50.0% |
7/14 |
| Abnormality of the cerebral ventricles |
7.1% |
1/14 |
| Abnormality of lateral ventricle |
7.1% |
1/14 |
| Cerebral white matter atrophy |
7.1% |
1/14 |
| Cortical dysplasia |
7.1% |
1/14 |
| Delayed myelination |
7.1% |
1/14 |
| Dilation of lateral ventricles |
7.1% |
1/14 |
| Encephalomalacia |
7.1% |
1/14 |
| Focal white matter lesions |
7.1% |
1/14 |
| Gliosis |
7.1% |
1/14 |
| Widened subarachnoid space |
7.1% |
1/14 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
83.3% |
15/18 |
| Abnormality of the pinna |
38.9% |
7/18 |
| Posteriorly rotated ears |
38.9% |
7/18 |
| Low-set ears |
16.7% |
3/18 |
| Protruding ear |
16.7% |
3/18 |
| Abnormality of cartilage of external ear |
5.6% |
1/18 |
| Attached earlobe |
5.6% |
1/18 |
| Abnormality of the eye |
73.7% |
14/19 |
| Downslanted palpebral fissures |
26.3% |
5/19 |
| Strabismus |
26.3% |
5/19 |
| Deeply set eye |
5.3% |
1/19 |
| Epicanthus |
5.3% |
1/19 |
| Myopia |
5.3% |
1/19 |
| Periorbital fullness |
5.3% |
1/19 |
| Prominent epicanthal folds |
5.3% |
1/19 |
| Ptosis |
5.3% |
1/19 |
| Short palpebral fissure |
5.3% |
1/19 |
| Telecanthus |
5.3% |
1/19 |
| Upslanted palpebral fissure |
5.3% |
1/19 |
| Abnormality of the nose |
63.2% |
12/19 |
| Bulbous nose |
42.1% |
8/19 |
| Broad nasal tip |
5.3% |
1/19 |
| Triangular nasal tip |
5.3% |
1/19 |
| Wide nose |
5.3% |
1/19 |
| Abnormality of the mouth |
84.2% |
16/19 |
| Thick lower lip vermilion |
47.4% |
9/19 |
| Abnormality of upper lip |
26.3% |
5/19 |
| Abnormality of the teeth |
10.5% |
2/19 |
| Narrow mouth |
10.5% |
2/19 |
| Thin upper lip vermilion |
10.5% |
2/19 |
| Abnormality of lower lip |
5.3% |
1/19 |
| Downturned corners of mouth |
5.3% |
1/19 |
| Macrodontia |
5.3% |
1/19 |
| Micrognathia |
5.3% |
1/19 |
| Misalignment of teeth |
5.3% |
1/19 |
| Narrow palate |
5.3% |
1/19 |
| Paramedian lip pit |
5.3% |
1/19 |
| Retrognathia |
5.3% |
1/19 |
| Smooth philtrum |
5.3% |
1/19 |
| Submucous cleft soft palate |
5.3% |
1/19 |
| Thick upper lip vermilion |
5.3% |
1/19 |
| Velopharyngeal insufficiency |
5.3% |
1/19 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
11.1% |
2/18 |
| Conductive hearing impairment |
5.6% |
1/18 |
| Hearing impairment |
5.6% |
1/18 |
| Abnormal vision |
27.8% |
5/18 |
| Hypermetropia |
11.1% |
2/18 |
| Astigmatism |
5.6% |
1/18 |
| Chorioretinitis |
5.6% |
1/18 |
| Myopia |
5.6% |
1/18 |
| Nystagmus |
5.6% |
1/18 |
| Strabismus |
5.6% |
1/18 |
| Heart |
|
|
| Abnormality of the heart |
27.8% |
5/18 |
| Atria septal defect |
5.6% |
1/18 |
| Cardiomyopathy |
5.6% |
1/18 |
| Congenital malformation of the great arteries |
5.6% |
1/18 |
| Ebstein's anomaly of the tricuspid valve |
5.6% |
1/18 |
| Generalized amyloid deposition |
5.6% |
1/18 |
| Mitral regurgitation |
5.6% |
1/18 |
| Patent foramen ovale |
5.6% |
1/18 |
| Pulmonary artery stenosis |
5.6% |
1/18 |
| Sinus tachycardia |
5.6% |
1/18 |
| Ventricular septal defect |
5.6% |
1/18 |
| Pulmonary |
|
|
| Abnormality of the lungs |
50.0% |
1/2 |
| Breathing dysregulation |
50.0% |
1/2 |
| Pneumonia |
50.0% |
1/2 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
72.2% |
13/18 |
| Feeding difficulties |
55.6% |
10/18 |
| Abnormality of the esophagus |
5.6% |
1/18 |
| Chewing difficulties |
5.6% |
1/18 |
| Dysphagia |
5.6% |
1/18 |
| Esophageal atresia |
5.6% |
1/18 |
| Feeding difficulties in infancy |
5.6% |
1/18 |
| Gastrostomy tube feeding in infancy |
5.6% |
1/18 |
| Hepatic fibrosis |
5.6% |
1/18 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
25.0% |
4/16 |
| Hydronephrosis |
18.8% |
3/16 |
| Bilateral cryptorchidism |
6.3% |
1/16 |
| Coronal hypospadias |
6.3% |
1/16 |
| Ureteral stenosis |
6.3% |
1/16 |
| Skeleton |
|
|
| Skeletal abnormalities |
68.4% |
13/19 |
| Increased laxity of fingers |
10.5% |
2/19 |
| Long fingers |
10.5% |
2/19 |
| Scoliosis |
10.5% |
2/19 |
| Abnormality of the rib cage |
5.3% |
1/19 |
| Abnormality of the thumb |
5.3% |
1/19 |
| Aplasia/hypoplasia of the femur |
5.3% |
1/19 |
| Arachnodactyly |
5.3% |
1/19 |
| Breast hypoplasia |
5.3% |
1/19 |
| Camptodactyly |
5.3% |
1/19 |
| Camptodactyly of finger |
5.3% |
1/19 |
| Clinodactyly of the 5th finger |
5.3% |
1/19 |
| Distal lower limb amyotrophy |
5.3% |
1/19 |
| Distal arthrogryposis |
5.3% |
1/19 |
| Generalized joint laxity |
5.3% |
1/19 |
| Hallux valgus |
5.3% |
1/19 |
| Hip dysplasia |
5.3% |
1/19 |
| Hypoplastic labia majora |
5.3% |
1/19 |
| Joint hypermobility |
5.3% |
1/19 |
| Lumbar hyperlordosis |
5.3% |
1/19 |
| Patellar subluxation |
5.3% |
1/19 |
| Pectus excavatum |
5.3% |
1/19 |
| Pectus carinatum |
5.3% |
1/19 |
| Pes planus |
5.3% |
1/19 |
| Sandal gap |
5.3% |
1/19 |
| Thoracolumbar scoliosis |
5.3% |
1/19 |
| Thoracolumbar kyphoscoliosis |
5.3% |
1/19 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
47.4% |
9/19 |
| Abnormality of hair texture |
5.3% |
1/19 |
| Facial hirsutism |
5.3% |
1/19 |
| Few cafe-au-lait spots |
5.3% |
1/19 |
| Frontal upsweep of hair |
5.3% |
1/19 |
| Hyperextensible skin |
5.3% |
1/19 |
| Hypoplastic nipples |
5.3% |
1/19 |
| Soft skin |
5.3% |
1/19 |
| Striae distensae |
5.3% |
1/19 |
| Sydney crease |
5.3% |
1/19 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
38.9% |
7/18 |
| Hypothyroidism |
11.1% |
2/18 |
| Congenital hypothyroidism |
5.6% |
1/18 |
| Diabetes mellitus |
5.6% |
1/18 |
| Growth hormone deficiency |
5.6% |
1/18 |
| Hyperthyroidism |
5.6% |
1/18 |
| Polycystic ovaries |
5.6% |
1/18 |
| Precocious puberty in females |
5.6% |
1/18 |
| Abnormality of the metabolic system |
5.6% |
1/18 |
| Childhood-onset truncal obesity |
5.6% |
1/18 |
| Sleep apnea |
5.6% |
1/18 |
| Abnormality of the immune system |
11.1% |
2/18 |
| Recurrent infections |
11.1% |
2/18 |
| Neoplasia |
|
|
| Neoplasia |
5.3% |
1/19 |
| Neuroblastoma |
5.3% |
1/19 |