| Gender |
|
|
| Male |
50.0% |
12/24 |
| Female |
50.0% |
12/24 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/5 |
| Birth Weight abnormalities |
0% |
0/6 |
| Birth Head circumference abnormalities |
0% |
0/2 |
| Current Height abnormalities |
28.6% |
4/14 |
| < P3 : Short stature |
28.6% |
4/14 |
| Current Weight abnormalities |
33.3% |
1/3 |
| < P3 : Decreased body weight |
33.3% |
1/3 |
| Current Head circumference abnormalities |
40.0% |
2/5 |
| < P3 : Microcephaly |
40.0% |
2/5 |
| Neurology |
|
|
| Neurological abnormalities |
50.0% |
12/24 |
| Generalized hypotonia |
37.5% |
9/24 |
| Global developmental delay |
8.3% |
2/24 |
| Clumsiness |
4.2% |
1/24 |
| Febrile seizures |
4.2% |
1/24 |
| Neonatal hypotonia |
4.2% |
1/24 |
| Behavioral problems |
20.8% |
5/24 |
| Anxiety |
12.5% |
3/24 |
| Behavioral abnormality |
4.2% |
1/24 |
| Hyperactivity |
4.2% |
1/24 |
| Shyness |
4.2% |
1/24 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
76.2% |
16/21 |
| Posteriorly rotated ears |
14.3% |
3/21 |
| Aplasia/Hypoplasia of the ear |
9.5% |
2/21 |
| Protruding ear |
9.5% |
2/21 |
| Absent earlobe |
4.8% |
1/21 |
| Low-set ears |
4.8% |
1/21 |
| Low-set, posteriorly rotated ears |
4.8% |
1/21 |
| Macrotia |
4.8% |
1/21 |
| Overfolded helix |
4.8% |
1/21 |
| Preauricular skin tag |
4.8% |
1/21 |
| Stenosis of the external auditory canal |
4.8% |
1/21 |
| Abnormality of the eye |
68.2% |
15/22 |
| Almond-shaped palpebral fissure |
22.7% |
5/22 |
| Hypertelorism |
22.7% |
5/22 |
| Downslanted palpebral fissures |
13.6% |
3/22 |
| Strabismus |
13.6% |
3/22 |
| Ptosis |
9.1% |
2/22 |
| Upslanted palpebral fissure |
9.1% |
2/22 |
| Abnormality of the lacrimal duct |
4.5% |
1/22 |
| Abnormality of the eyelid |
4.5% |
1/22 |
| Abnormality of the nasolacrimal system |
4.5% |
1/22 |
| Epicanthus |
4.5% |
1/22 |
| Hypoplasia of the iris |
4.5% |
1/22 |
| Hypoplasia of eyelid |
4.5% |
1/22 |
| Iris coloboma |
4.5% |
1/22 |
| Long eyelashes |
4.5% |
1/22 |
| Prominent epicanthal folds |
4.5% |
1/22 |
| Abnormality of the nose |
81.0% |
17/21 |
| Prominent nasal bridge |
28.6% |
6/21 |
| Abnormality of the nasal alae |
23.8% |
5/21 |
| Long nose |
23.8% |
5/21 |
| Prominent nose |
19.0% |
4/21 |
| Underdeveloped nasal alae |
19.0% |
4/21 |
| Wide nasal bridge |
19.0% |
4/21 |
| Narrow nose |
14.3% |
3/21 |
| Prominent nasal tip |
14.3% |
3/21 |
| Abnormality of the nasal tip |
9.5% |
2/21 |
| Wide nasal base |
9.5% |
2/21 |
| Abnormality of the external nose |
4.8% |
1/21 |
| Bilateral choanal atresia |
4.8% |
1/21 |
| Pear-shaped nose |
4.8% |
1/21 |
| Thick nasal alae |
4.8% |
1/21 |
| Abnormality of the mouth |
90.9% |
20/22 |
| Cleft palate |
40.9% |
9/22 |
| Velopharyngeal insufficiency |
36.4% |
8/22 |
| High palate |
13.6% |
3/22 |
| Thin upper lip vermilion |
13.6% |
3/22 |
| Long philtrum |
9.1% |
2/22 |
| Narrow mouth |
9.1% |
2/22 |
| Bifid uvula |
4.5% |
1/22 |
| Broad alveolar ridges |
4.5% |
1/22 |
| Deep philtrum |
4.5% |
1/22 |
| High, narrow palate |
4.5% |
1/22 |
| Hypoplastic philtrum |
4.5% |
1/22 |
| Open mouth |
4.5% |
1/22 |
| Short philtrum |
4.5% |
1/22 |
| Short upper lip |
4.5% |
1/22 |
| Smooth philtrum |
4.5% |
1/22 |
| Submucous cleft soft palate |
4.5% |
1/22 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
8.7% |
2/23 |
| Conductive hearing impairment |
4.3% |
1/23 |
| Mild hearing impairment |
4.3% |
1/23 |
| Abnormal vision |
21.7% |
5/23 |
| Hypermetropia |
8.7% |
2/23 |
| Myopia |
4.3% |
1/23 |
| Visual impairment |
4.3% |
1/23 |
| Heart |
|
|
| Abnormality of the heart |
50.0% |
12/24 |
| Ventricular septal defect |
25.0% |
6/24 |
| Atria septal defect |
8.3% |
2/24 |
| Patent ductus arteriosus |
8.3% |
2/24 |
| Tetralogy of Fallot |
8.3% |
2/24 |
| Abnormality of the aorta |
4.2% |
1/24 |
| Interrupted aortic arch |
4.2% |
1/24 |
| Interrupted aortic arch type B |
4.2% |
1/24 |
| Left-to-right shunt |
4.2% |
1/24 |
| Mitral regurgitation |
4.2% |
1/24 |
| Muscular ventricular septal defect |
4.2% |
1/24 |
| Patent ductus arteriosus after birth at term |
4.2% |
1/24 |
| Patent foramen ovale |
4.2% |
1/24 |
| Perimembranous ventricular septal defect |
4.2% |
1/24 |
| Peripheral pulmonary artery stenosis |
4.2% |
1/24 |
| Pulmonic stenosis |
4.2% |
1/24 |
| Pulmonary hypertension |
4.2% |
1/24 |
| Right aortic arch |
4.2% |
1/24 |
| Secundum atrial septal defect |
4.2% |
1/24 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
20.8% |
5/24 |
| Feeding difficulties |
8.3% |
2/24 |
| Inguinal hernia |
8.3% |
2/24 |
| Nasal regurgitation |
8.3% |
2/24 |
| Umbilical hernia |
4.2% |
1/24 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
8.3% |
2/24 |
| Cryptorchidism |
4.2% |
1/24 |
| Ectopic kidney |
4.2% |
1/24 |
| Skeleton |
|
|
| Skeletal abnormalities |
58.3% |
14/24 |
| Micrognathia |
20.8% |
5/24 |
| Hypoplasia of the maxilla |
12.5% |
3/24 |
| Long fingers |
12.5% |
3/24 |
| Retrognathia |
12.5% |
3/24 |
| Abnormality of the skull |
8.3% |
2/24 |
| Abnormality of the skeletal system |
8.3% |
2/24 |
| Malar flattening |
8.3% |
2/24 |
| Talipes equinovarus |
8.3% |
2/24 |
| Abnormality of the distal phalanx of finger |
4.2% |
1/24 |
| Abnormality of the hand |
4.2% |
1/24 |
| Dolichocephaly |
4.2% |
1/24 |
| Long foot |
4.2% |
1/24 |
| Narrow palm |
4.2% |
1/24 |
| Overlapping toe |
4.2% |
1/24 |
| Scoliosis |
4.2% |
1/24 |
| Slender finger |
4.2% |
1/24 |
| Small hand |
4.2% |
1/24 |
| Small anterior fontanelle |
4.2% |
1/24 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
25.0% |
6/24 |
| Carious teeth |
12.5% |
3/24 |
| Abnormality of the scalp hair |
4.2% |
1/24 |
| Bilateral single transverse palmar creases |
4.2% |
1/24 |
| Cyanosis |
4.2% |
1/24 |
| Hypertrichosis |
4.2% |
1/24 |
| Hyperhidrosis |
4.2% |
1/24 |
| Misalignment of teeth |
4.2% |
1/24 |
| Sacral dimple |
4.2% |
1/24 |
| Synophrys |
4.2% |
1/24 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
12.5% |
3/24 |
| Aplasia of the thymus |
4.2% |
1/24 |
| Hypoparathyroidism |
4.2% |
1/24 |
| Hypothyroidism |
4.2% |
1/24 |
| Abnormality of the metabolic system |
20.8% |
5/24 |
| Hypocalcemia |
20.8% |
5/24 |
| Abnormality of the immune system |
45.8% |
11/24 |
| Recurrent infections |
20.8% |
5/24 |
| Abnormality of T cell number |
8.3% |
2/24 |
| Recurrent respiratory infections |
8.3% |
2/24 |
| Decreased number of CD8+ T cells |
4.2% |
1/24 |