| Gender |
|
|
| Male |
47.4% |
9/19 |
| Female |
52.6% |
10/19 |
| General |
|
|
| Birth Length abnormalities |
5.3% |
1/19 |
| < P3 : Birth length less than 3rd percentile |
5.3% |
1/19 |
| Birth Weight abnormalities |
0% |
0/19 |
| Birth Head circumference abnormalities |
10.5% |
2/19 |
| < P3 : Congenital microcephaly |
10.5% |
2/19 |
| Current Height abnormalities |
31.6% |
6/19 |
| < P3 : Short stature |
31.6% |
6/19 |
| Current Weight abnormalities |
5.3% |
1/19 |
| < P3 : Decreased body weight |
5.3% |
1/19 |
| Current Head circumference abnormalities |
36.8% |
7/19 |
| < P3 : Microcephaly |
36.8% |
7/19 |
| Neurology |
|
|
| Neurological abnormalities |
87.5% |
14/16 |
| Muscular hypotonia |
56.3% |
9/16 |
| Seizures |
37.5% |
6/16 |
| Neonatal hypotonia |
18.8% |
3/16 |
| Speech apraxia |
12.5% |
2/16 |
| Central sleep apnea |
6.3% |
1/16 |
| Generalized tonic-clonic seizures |
6.3% |
1/16 |
| Sleep disturbance |
6.3% |
1/16 |
| Behavioral problems |
54.5% |
6/11 |
| Autism |
27.3% |
3/11 |
| Attention deficit hyperactivity disorder |
18.2% |
2/11 |
| Behavioral abnormality |
9.1% |
1/11 |
| Hyperactivity |
9.1% |
1/11 |
| Shyness |
9.1% |
1/11 |
| Brain abnormality |
45.5% |
5/11 |
| Abnormality of the cerebral white matter |
9.1% |
1/11 |
| Abnormality of the corpus callosum |
9.1% |
1/11 |
| Agenesis of corpus callosum |
9.1% |
1/11 |
| Perivascular spaces |
9.1% |
1/11 |
| Subependymal cysts |
9.1% |
1/11 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
31.6% |
6/19 |
| Hypoplastic superior helix |
5.3% |
1/19 |
| Low-set ears |
5.3% |
1/19 |
| Low-set, posteriorly rotated ears |
5.3% |
1/19 |
| Macrotia |
5.3% |
1/19 |
| Microtia |
5.3% |
1/19 |
| Small earlobe |
5.3% |
1/19 |
| Thickened helices |
5.3% |
1/19 |
| Abnormality of the eye |
94.7% |
18/19 |
| Ptosis |
68.4% |
13/19 |
| Blepharophimosis |
52.6% |
10/19 |
| Downslanted palpebral fissures |
52.6% |
10/19 |
| Hypertelorism |
21.1% |
4/19 |
| Prominent epicanthal folds |
5.3% |
1/19 |
| Short palpebral fissure |
5.3% |
1/19 |
| Small palpebral fissure |
5.3% |
1/19 |
| Upslanted palpebral fissure |
5.3% |
1/19 |
| Abnormality of the nose |
26.3% |
5/19 |
| Narrow naris |
15.8% |
3/19 |
| Depressed nasal bridge |
10.5% |
2/19 |
| Prominent nasal tip |
5.3% |
1/19 |
| Short nose |
5.3% |
1/19 |
| Abnormality of the mouth |
94.7% |
18/19 |
| Downturned corners of mouth |
52.6% |
10/19 |
| Narrow mouth |
15.8% |
3/19 |
| Short philtrum |
15.8% |
3/19 |
| Widely spaced teeth |
15.8% |
3/19 |
| Exaggerated cupid's bow |
10.5% |
2/19 |
| Bifid uvula |
5.3% |
1/19 |
| Dental malocclusion |
5.3% |
1/19 |
| High palate |
5.3% |
1/19 |
| Micrognathia |
5.3% |
1/19 |
| Narrow palate |
5.3% |
1/19 |
| Smooth philtrum |
5.3% |
1/19 |
| Thick upper lip vermilion |
5.3% |
1/19 |
| Thin upper lip vermilion |
5.3% |
1/19 |
| Upturned corners of mouth |
5.3% |
1/19 |
| Wide mouth |
5.3% |
1/19 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
66.7% |
12/18 |
| Abnormality of refraction |
22.2% |
4/18 |
| Strabismus |
22.2% |
4/18 |
| Amblyopia |
16.7% |
3/18 |
| Hypermetropia |
11.1% |
2/18 |
| Aplasia/Hypoplasia of the optic nerve |
5.6% |
1/18 |
| Hyperopic astigmatism |
5.6% |
1/18 |
| Myopia |
5.6% |
1/18 |
| Nystagmus |
5.6% |
1/18 |
| Optic nerve hypoplasia |
5.6% |
1/18 |
| Heart |
|
|
| Abnormality of the heart |
10.5% |
2/19 |
| Atria septal defect |
5.3% |
1/19 |
| Hypertrophic cardiomyopathy |
5.3% |
1/19 |
| Pulmonic stenosis |
5.3% |
1/19 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
2/2 |
| Asthma |
100.0% |
2/2 |
| Tracheomalacia |
50.0% |
1/2 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
80.0% |
8/10 |
| Feeding difficulties |
40.0% |
4/10 |
| Constipation |
20.0% |
2/10 |
| Encopresis |
20.0% |
2/10 |
| Gastroesophageal reflux |
20.0% |
2/10 |
| Esophageal ulceration |
10.0% |
1/10 |
| Esophagitis |
10.0% |
1/10 |
| Skeleton |
|
|
| Skeletal abnormalities |
94.7% |
18/19 |
| Brachydactyly syndrome |
26.3% |
5/19 |
| Short metacarpal |
26.3% |
5/19 |
| Joint hypermobility |
21.1% |
4/19 |
| Cervical vertebral fusion (C2/C3) |
10.5% |
2/19 |
| Contracture of the proximal interphalangeal joint of the 5th finger |
10.5% |
2/19 |
| Abnormality of the thumb |
5.3% |
1/19 |
| Broad fingertip |
5.3% |
1/19 |
| Butterfly vertebrae |
5.3% |
1/19 |
| Camptodactyly of toe |
5.3% |
1/19 |
| Clinodactyly of the 5th toe |
5.3% |
1/19 |
| Clinodactyly of the 5th finger |
5.3% |
1/19 |
| Clinodactyly |
5.3% |
1/19 |
| Contracture of the proximal interphalangeal joint of the 2nd finger |
5.3% |
1/19 |
| Cubitus valgus |
5.3% |
1/19 |
| Finger clinodactyly |
5.3% |
1/19 |
| Limb joint contracture |
5.3% |
1/19 |
| Long toe |
5.3% |
1/19 |
| Metatarsus adductus |
5.3% |
1/19 |
| Short foot |
5.3% |
1/19 |
| Short finger |
5.3% |
1/19 |
| Talipes equinovarus |
5.3% |
1/19 |
| Tapered finger |
5.3% |
1/19 |
| 2-3 toe syndactyly |
5.3% |
1/19 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
30.0% |
3/10 |
| Abnormality of the palmar creases |
10.0% |
1/10 |
| Bilateral single transverse palmar creases |
10.0% |
1/10 |
| Eczema |
10.0% |
1/10 |
| Synophrys |
10.0% |
1/10 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
100.0% |
1/1 |
| Hypothyroidism |
100.0% |
1/1 |