Gender |
|
|
Male |
53.3% |
8/15 |
Female |
46.7% |
7/15 |
Indifferent |
0% |
0/15 |
Unknown |
0% |
0/15 |
General |
|
|
Birth Length abnormalities |
0% |
0/15 |
Birth Weight abnormalities |
6.7% |
1/15 |
< P3 : Small for gestational age |
6.7% |
1/15 |
Birth Head circumference abnormalities |
0% |
0/15 |
Current Height abnormalities |
6.7% |
1/15 |
< P3 : Short stature |
6.7% |
1/15 |
Current Weight abnormalities |
26.7% |
4/15 |
> P98 : Increased body weight |
6.7% |
1/15 |
< P3 : Decreased body weight |
20.0% |
3/15 |
Current Head circumference abnormalities |
13.3% |
2/15 |
< P3 : Microcephaly |
13.3% |
2/15 |
Neurology |
|
|
Neurological abnormalities |
86.7% |
13/15 |
Poor speech |
46.7% |
7/15 |
Global developmental delay |
40.0% |
6/15 |
Severe expressive language delay |
33.3% |
5/15 |
Mild receptive language delay |
20.0% |
3/15 |
Absent speech |
13.3% |
2/15 |
Febrile seizures |
13.3% |
2/15 |
Delayed speech and language development |
6.7% |
1/15 |
Generalized seizures |
6.7% |
1/15 |
Generalized hypotonia |
6.7% |
1/15 |
Hand tremor |
6.7% |
1/15 |
Hypomimic face |
6.7% |
1/15 |
Language impairment |
6.7% |
1/15 |
Lower limb spasticity |
6.7% |
1/15 |
Mild expressive language delay |
6.7% |
1/15 |
Seizures |
6.7% |
1/15 |
Behavioral problems |
92.3% |
12/13 |
Attention deficit hyperactivity disorder |
46.2% |
6/13 |
Abnormal aggressive, impulsive or violent behavior |
38.5% |
5/13 |
Short attention span |
30.8% |
4/13 |
Autistic behavior |
15.4% |
2/13 |
Abnormal fear/anxiety-related behavior |
7.7% |
1/13 |
Anxiety |
7.7% |
1/13 |
Apathy |
7.7% |
1/13 |
Autism |
7.7% |
1/13 |
Hyperactivity |
7.7% |
1/13 |
Impulsivity |
7.7% |
1/13 |
Sleep disturbance |
7.7% |
1/13 |
Brain abnormality |
10.0% |
1/10 |
Abnormal myelination |
10.0% |
1/10 |
Microcephaly |
10.0% |
1/10 |
Facial abnormalities |
|
|
Abnormality of the ear |
41.7% |
5/12 |
Low-set ears |
25.0% |
3/12 |
Small earlobe |
16.7% |
2/12 |
Anteverted ears |
8.3% |
1/12 |
Large fleshy ears |
8.3% |
1/12 |
Abnormality of the eye |
71.4% |
10/14 |
Hypertelorism |
21.4% |
3/14 |
Ptosis |
21.4% |
3/14 |
Deeply set eye |
14.3% |
2/14 |
Periorbital fullness |
14.3% |
2/14 |
Prominent epicanthal folds |
14.3% |
2/14 |
Abnormal size of the palpebral fissures |
7.1% |
1/14 |
Bilateral ptosis |
7.1% |
1/14 |
Blepharophimosis |
7.1% |
1/14 |
Downslanted palpebral fissures |
7.1% |
1/14 |
Epicanthus |
7.1% |
1/14 |
Strabismus |
7.1% |
1/14 |
Abnormality of the nose |
46.7% |
7/15 |
Broad nasal tip |
26.7% |
4/15 |
Broad philtrum |
6.7% |
1/15 |
Depressed nasal bridge |
6.7% |
1/15 |
Long nose |
6.7% |
1/15 |
Narrow naris |
6.7% |
1/15 |
Prominent nasal bridge |
6.7% |
1/15 |
Wide nasal bridge |
6.7% |
1/15 |
Abnormality of the mouth |
50.0% |
7/14 |
High palate |
21.4% |
3/14 |
Thin upper lip vermilion |
14.3% |
2/14 |
Ankyloglossia |
7.1% |
1/14 |
Broad philtrum |
7.1% |
1/14 |
Long philtrum |
7.1% |
1/14 |
Misalignment of teeth |
7.1% |
1/14 |
Oligodontia |
7.1% |
1/14 |
Smooth philtrum |
7.1% |
1/14 |
Visual and hearing impairments |
|
|
Abnormal hearing |
14.3% |
1/7 |
Adult onset sensorineural hearing impairment |
14.3% |
1/7 |
Abnormal vision |
42.9% |
3/7 |
Abnormality of refraction |
14.3% |
1/7 |
Hypermetropia |
14.3% |
1/7 |
Myopia |
14.3% |
1/7 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
11.1% |
1/9 |
Abnormality of the intestine |
11.1% |
1/9 |
Urogenital |
|
|
Abnormality of the urogenital system |
12.5% |
1/8 |
Abnormality of the kidney |
12.5% |
1/8 |
Bilateral cryptorchidism |
12.5% |
1/8 |
Hydronephrosis |
12.5% |
1/8 |
Skeleton |
|
|
Skeletal abnormalities |
40.0% |
4/10 |
Abnormality of the skull |
10.0% |
1/10 |
Clinodactyly of the 5th finger |
10.0% |
1/10 |
Long toe |
10.0% |
1/10 |
Long fingers |
10.0% |
1/10 |
Pectus excavatum |
10.0% |
1/10 |
Prominent interdigital folds |
10.0% |
1/10 |
Thoracic kyphosis |
10.0% |
1/10 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
50.0% |
7/14 |
Cafe-au-lait spot |
14.3% |
2/14 |
Absent fourth finger distal interphalangeal crease |
7.1% |
1/14 |
Brittle hair |
7.1% |
1/14 |
Eczema |
7.1% |
1/14 |
Few cafe-au-lait spots |
7.1% |
1/14 |
Hirsutism |
7.1% |
1/14 |
Naevus flammeus of the eyelid |
7.1% |
1/14 |
Nail-biting |
7.1% |
1/14 |
2-3 finger syndactyly |
7.1% |
1/14 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the metabolic system |
18.2% |
2/11 |
Microcytic anemia |
9.1% |
1/11 |
Type II diabetes mellitus |
9.1% |
1/11 |