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 corpus callosum |
9.1% |
1/11 |
Abnormality of the cerebral white matter |
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, posteriorly rotated ears |
5.3% |
1/19 |
Low-set 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 finger |
5.3% |
1/19 |
Clinodactyly of the 5th toe |
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 |