Gender |
|
|
Male |
41.2% |
7/17 |
Female |
58.8% |
10/17 |
Indifferent |
0% |
0/17 |
Unknown |
0% |
0/17 |
General |
|
|
Birth Length abnormalities |
28.6% |
2/7 |
< P3 : Birth length less than 3rd percentile |
14.3% |
1/7 |
> P98 : Birth length greater than 97th percentile |
14.3% |
1/7 |
Birth Weight abnormalities |
20.0% |
3/15 |
< P3 : Small for gestational age |
13.3% |
2/15 |
> P98 : Large for gestational age |
6.7% |
1/15 |
Birth Head circumference abnormalities |
16.7% |
1/6 |
> P98 : Macrocephaly at birth |
16.7% |
1/6 |
Current Height abnormalities |
18.8% |
3/16 |
< P3 : Short stature |
12.5% |
2/16 |
> P98 : Tall stature |
6.3% |
1/16 |
Current Weight abnormalities |
33.3% |
5/15 |
< P3 : Decreased body weight |
20.0% |
3/15 |
> P98 : Increased body weight |
13.3% |
2/15 |
Current Head circumference abnormalities |
11.1% |
2/18 |
< P3 : Microcephaly |
11.1% |
2/18 |
Neurology |
|
|
Neurological abnormalities |
68.8% |
11/16 |
Muscular hypotonia |
18.8% |
3/16 |
Dystonia |
12.5% |
2/16 |
Delayed speech and language development |
6.3% |
1/16 |
Delayed fine motor development |
6.3% |
1/16 |
Distal lower limb amyotrophy |
6.3% |
1/16 |
Febrile seizures |
6.3% |
1/16 |
Generalized tonic seizures |
6.3% |
1/16 |
Macrocephaly |
6.3% |
1/16 |
Neonatal hypotonia |
6.3% |
1/16 |
Specific learning disability |
6.3% |
1/16 |
Toe walking |
6.3% |
1/16 |
Tremor |
6.3% |
1/16 |
Unsteady gait |
6.3% |
1/16 |
Waddling gait |
6.3% |
1/16 |
Behavioral problems |
58.8% |
10/17 |
Attention deficit hyperactivity disorder |
17.6% |
3/17 |
Anxiety |
11.8% |
2/17 |
Autism |
11.8% |
2/17 |
Sleep disturbance |
11.8% |
2/17 |
Low frustration tolerance |
5.9% |
1/17 |
Short attention span |
5.9% |
1/17 |
Stereotypic behavior |
5.9% |
1/17 |
Brain abnormality |
53.8% |
7/13 |
Abnormality of lateral ventricle |
7.7% |
1/13 |
Abnormality of the cerebral ventricles |
7.7% |
1/13 |
Cerebral white matter atrophy |
7.7% |
1/13 |
Cortical dysplasia |
7.7% |
1/13 |
Delayed myelination |
7.7% |
1/13 |
Dilation of lateral ventricles |
7.7% |
1/13 |
Encephalomalacia |
7.7% |
1/13 |
Focal white matter lesions |
7.7% |
1/13 |
Gliosis |
7.7% |
1/13 |
Widened subarachnoid space |
7.7% |
1/13 |
Facial abnormalities |
|
|
Abnormality of the ear |
87.5% |
14/16 |
Abnormality of the pinna |
43.8% |
7/16 |
Posteriorly rotated ears |
43.8% |
7/16 |
Low-set ears |
12.5% |
2/16 |
Protruding ear |
12.5% |
2/16 |
Abnormality of cartilage of external ear |
6.3% |
1/16 |
Attached earlobe |
6.3% |
1/16 |
Abnormality of the eye |
70.6% |
12/17 |
Downslanted palpebral fissures |
29.4% |
5/17 |
Strabismus |
29.4% |
5/17 |
Deeply set eye |
5.9% |
1/17 |
Epicanthus |
5.9% |
1/17 |
Myopia |
5.9% |
1/17 |
Periorbital fullness |
5.9% |
1/17 |
Prominent epicanthal folds |
5.9% |
1/17 |
Ptosis |
5.9% |
1/17 |
Telecanthus |
5.9% |
1/17 |
Abnormality of the nose |
58.8% |
10/17 |
Bulbous nose |
47.1% |
8/17 |
Wide nose |
5.9% |
1/17 |
Abnormality of the mouth |
82.4% |
14/17 |
Thick lower lip vermilion |
47.1% |
8/17 |
Abnormality of upper lip |
29.4% |
5/17 |
Abnormality of the teeth |
11.8% |
2/17 |
Abnormality of lower lip |
5.9% |
1/17 |
Downturned corners of mouth |
5.9% |
1/17 |
Micrognathia |
5.9% |
1/17 |
Narrow mouth |
5.9% |
1/17 |
Paramedian lip pit |
5.9% |
1/17 |
Retrognathia |
5.9% |
1/17 |
Submucous cleft soft palate |
5.9% |
1/17 |
Thick upper lip vermilion |
5.9% |
1/17 |
Thin upper lip vermilion |
5.9% |
1/17 |
Velopharyngeal insufficiency |
5.9% |
1/17 |
Visual and hearing impairments |
|
|
Abnormal vision |
25.0% |
4/16 |
Hypermetropia |
12.5% |
2/16 |
Astigmatism |
6.3% |
1/16 |
Myopia |
6.3% |
1/16 |
Nystagmus |
6.3% |
1/16 |
Strabismus |
6.3% |
1/16 |
Heart |
|
|
Abnormality of the heart |
25.0% |
4/16 |
Atria septal defect |
6.3% |
1/16 |
Congenital malformation of the great arteries |
6.3% |
1/16 |
Ebstein's anomaly of the tricuspid valve |
6.3% |
1/16 |
Mitral regurgitation |
6.3% |
1/16 |
Patent foramen ovale |
6.3% |
1/16 |
Pulmonary artery stenosis |
6.3% |
1/16 |
Sinus tachycardia |
6.3% |
1/16 |
Ventricular septal defect |
6.3% |
1/16 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
70.6% |
12/17 |
Feeding difficulties |
52.9% |
9/17 |
Abnormality of the esophagus |
5.9% |
1/17 |
Chewing difficulties |
5.9% |
1/17 |
Dysphagia |
5.9% |
1/17 |
Esophageal atresia |
5.9% |
1/17 |
Feeding difficulties in infancy |
5.9% |
1/17 |
Gastrostomy tube feeding in infancy |
5.9% |
1/17 |
Hepatic fibrosis |
5.9% |
1/17 |
Urogenital |
|
|
Abnormality of the urogenital system |
28.6% |
4/14 |
Hydronephrosis |
21.4% |
3/14 |
Bilateral cryptorchidism |
7.1% |
1/14 |
Coronal hypospadias |
7.1% |
1/14 |
Ureteral stenosis |
7.1% |
1/14 |
Skeleton |
|
|
Skeletal abnormalities |
64.7% |
11/17 |
Increased laxity of fingers |
11.8% |
2/17 |
Long fingers |
11.8% |
2/17 |
Camptodactyly of finger |
5.9% |
1/17 |
Clinodactyly of the 5th finger |
5.9% |
1/17 |
Distal arthrogryposis |
5.9% |
1/17 |
Distal lower limb amyotrophy |
5.9% |
1/17 |
Generalized joint laxity |
5.9% |
1/17 |
Hallux valgus |
5.9% |
1/17 |
Hip dysplasia |
5.9% |
1/17 |
Joint hypermobility |
5.9% |
1/17 |
Lumbar hyperlordosis |
5.9% |
1/17 |
Patellar subluxation |
5.9% |
1/17 |
Pectus excavatum |
5.9% |
1/17 |
Pes planus |
5.9% |
1/17 |
Sandal gap |
5.9% |
1/17 |
Scoliosis |
5.9% |
1/17 |
Thoracolumbar scoliosis |
5.9% |
1/17 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
47.1% |
8/17 |
Abnormality of hair texture |
5.9% |
1/17 |
Facial hirsutism |
5.9% |
1/17 |
Few cafe-au-lait spots |
5.9% |
1/17 |
Frontal upsweep of hair |
5.9% |
1/17 |
Hyperextensible skin |
5.9% |
1/17 |
Soft skin |
5.9% |
1/17 |
Striae distensae |
5.9% |
1/17 |
Sydney crease |
5.9% |
1/17 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
43.8% |
7/16 |
Hypothyroidism |
12.5% |
2/16 |
Congenital hypothyroidism |
6.3% |
1/16 |
Diabetes mellitus |
6.3% |
1/16 |
Growth hormone deficiency |
6.3% |
1/16 |
Hyperthyroidism |
6.3% |
1/16 |
Polycystic ovaries |
6.3% |
1/16 |
Precocious puberty in females |
6.3% |
1/16 |
Abnormality of the metabolic system |
6.3% |
1/16 |
Childhood-onset truncal obesity |
6.3% |
1/16 |
Sleep apnea |
6.3% |
1/16 |
Abnormality of the immune system |
12.5% |
2/16 |
Recurrent infections |
12.5% |
2/16 |
Neoplasia |
|
|
Neoplasia |
5.9% |
1/17 |
Neuroblastoma |
5.9% |
1/17 |