| Gender |
|
|
| Male |
66.7% |
2/3 |
| Female |
33.3% |
1/3 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/3 |
| Birth Weight abnormalities |
0% |
0/3 |
| Birth Head circumference abnormalities |
0% |
0/3 |
| Current Height abnormalities |
66.7% |
2/3 |
| < P3 : Short stature |
66.7% |
2/3 |
| Current Weight abnormalities |
100.0% |
2/2 |
| > P98 : Increased body weight |
50.0% |
1/2 |
| < P3 : Decreased body weight |
50.0% |
1/2 |
| Current Head circumference abnormalities |
0% |
0/3 |
| Neurology |
|
|
| Neurological abnormalities |
33.3% |
1/3 |
| Generalized tonic-clonic seizures |
33.3% |
1/3 |
| Neonatal hypotonia |
33.3% |
1/3 |
| Seizures |
33.3% |
1/3 |
| Behavioral problems |
50.0% |
1/2 |
| Short attention span |
50.0% |
1/2 |
| Brain abnormality |
33.3% |
1/3 |
| Cerebral hypoplasia |
33.3% |
1/3 |
| Cerebral atrophy |
33.3% |
1/3 |
| Ventriculomegaly |
33.3% |
1/3 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
66.7% |
2/3 |
| Low-set ears |
66.7% |
2/3 |
| Abnormality of the helix |
33.3% |
1/3 |
| Microtia, first degree |
33.3% |
1/3 |
| Abnormality of the eye |
100.0% |
3/3 |
| Broad forehead |
66.7% |
2/3 |
| Coarse facial features |
33.3% |
1/3 |
| Coloboma |
33.3% |
1/3 |
| Downslanted palpebral fissures |
33.3% |
1/3 |
| Hypertelorism |
33.3% |
1/3 |
| Short palpebral fissure |
33.3% |
1/3 |
| Small palpebral fissure |
33.3% |
1/3 |
| Abnormality of the nose |
66.7% |
2/3 |
| Broad philtrum |
33.3% |
1/3 |
| Broad nasal tip |
33.3% |
1/3 |
| Short philtrum |
33.3% |
1/3 |
| Thick nasal alae |
33.3% |
1/3 |
| Wide nose |
33.3% |
1/3 |
| Wide nasal bridge |
33.3% |
1/3 |
| Abnormality of the mouth |
66.7% |
2/3 |
| Thick upper lip vermilion |
66.7% |
2/3 |
| Everted lower lip vermilion |
33.3% |
1/3 |
| Thick lower lip vermilion |
33.3% |
1/3 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
33.3% |
1/3 |
| Myopia |
33.3% |
1/3 |
| Heart |
|
|
| Abnormality of the heart |
33.3% |
1/3 |
| Aortic valve atresia |
33.3% |
1/3 |
| Hypoplastic left heart |
33.3% |
1/3 |
| Mitral regurgitation |
33.3% |
1/3 |
| Neonatal respiratory distress |
33.3% |
1/3 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
66.7% |
2/3 |
| Abnormality of the diaphragm |
33.3% |
1/3 |
| Congenital diaphragmatic hernia |
33.3% |
1/3 |
| Diaphragmatic eventration |
33.3% |
1/3 |
| Inguinal hernia |
33.3% |
1/3 |
| Skeleton |
|
|
| Skeletal abnormalities |
66.7% |
2/3 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
66.7% |
2/3 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
66.7% |
2/3 |
| Aplasia/Hypoplasia of the 4th toe |
66.7% |
2/3 |
| Aplasia/Hypoplasia of the 2nd toe |
33.3% |
1/3 |
| Aplasia/Hypoplasia of the 5th toe |
33.3% |
1/3 |
| Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
33.3% |
1/3 |
| Brachycephaly |
33.3% |
1/3 |
| Broad distal phalanx of finger |
33.3% |
1/3 |
| Broad distal phalanx of the toes |
33.3% |
1/3 |
| Cleft palate |
33.3% |
1/3 |
| Dental crowding |
33.3% |
1/3 |
| Irregular dentition |
33.3% |
1/3 |
| Laryngotracheomalacia |
33.3% |
1/3 |
| Laryngomalacia |
33.3% |
1/3 |
| Pectus excavatum |
33.3% |
1/3 |
| Pectus carinatum |
33.3% |
1/3 |
| Scoliosis |
33.3% |
1/3 |
| Short 5th finger |
33.3% |
1/3 |
| Short 4th finger |
33.3% |
1/3 |
| Short thumb |
33.3% |
1/3 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
3/3 |
| Absent toenail |
33.3% |
1/3 |
| Absent fifth fingernail |
33.3% |
1/3 |
| Absent fifth toenail |
33.3% |
1/3 |
| Absent fingernail |
33.3% |
1/3 |
| Congenital, generalized hypertrichosis |
33.3% |
1/3 |
| Low anterior hairline |
33.3% |
1/3 |
| Low posterior hairline |
33.3% |
1/3 |
| Small nail |
33.3% |
1/3 |
| Thick hair |
33.3% |
1/3 |
| 2nd-5th toe middle phalangeal hypoplasia |
33.3% |
1/3 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
33.3% |
1/3 |
| Hypothyroidism |
33.3% |
1/3 |
| Abnormality of the immune system |
66.7% |
2/3 |
| Otitis media |
33.3% |
1/3 |
| Recurrent infections |
33.3% |
1/3 |
| Recurrent respiratory infections |
33.3% |
1/3 |
| Sepsis |
33.3% |
1/3 |