Gender |
|
|
Male |
42.1% |
8/19 |
Female |
57.9% |
11/19 |
Indifferent |
0% |
0/19 |
Unknown |
0% |
0/19 |
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 fine motor development |
5.6% |
1/18 |
Delayed speech and language 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 lateral ventricle |
7.1% |
1/14 |
Abnormality of the cerebral ventricles |
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 thumb |
5.3% |
1/19 |
Abnormality of the rib cage |
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 |