Gender |
|
|
Male |
56.3% |
9/16 |
Female |
43.8% |
7/16 |
Indifferent |
0% |
0/16 |
Unknown |
0% |
0/16 |
General |
|
|
Birth Length abnormalities |
0% |
0/9 |
Birth Weight abnormalities |
22.2% |
2/9 |
< P3 : Small for gestational age |
22.2% |
2/9 |
Birth Head circumference abnormalities |
11.1% |
1/9 |
< P3 : Congenital microcephaly |
11.1% |
1/9 |
Current Height abnormalities |
36.4% |
4/11 |
< P3 : Short stature |
36.4% |
4/11 |
Current Weight abnormalities |
22.2% |
2/9 |
> P98 : Increased body weight |
11.1% |
1/9 |
< P3 : Decreased body weight |
11.1% |
1/9 |
Current Head circumference abnormalities |
93.3% |
14/15 |
< P3 : Microcephaly |
93.3% |
14/15 |
Neurology |
|
|
Neurological abnormalities |
100.0% |
16/16 |
Febrile seizures |
62.5% |
10/16 |
Gait disturbance |
37.5% |
6/16 |
Global developmental delay |
31.3% |
5/16 |
Hypertonia |
31.3% |
5/16 |
Epileptic spasms |
18.8% |
3/16 |
obsolete Mental retardation, in some |
18.8% |
3/16 |
Seizures |
18.8% |
3/16 |
Mild receptive language delay |
12.5% |
2/16 |
Abnormality of the cerebellar vermis |
6.3% |
1/16 |
Absent speech |
6.3% |
1/16 |
Aplasia/Hypoplasia of the corpus callosum |
6.3% |
1/16 |
Expressive language delay |
6.3% |
1/16 |
Severe expressive language delay |
6.3% |
1/16 |
Behavioral problems |
100.0% |
13/13 |
Autism |
53.8% |
7/13 |
Stereotypic behavior |
38.5% |
5/13 |
Anxiety |
30.8% |
4/13 |
Abnormal fear/anxiety-related behavior |
23.1% |
3/13 |
Autistic behavior |
23.1% |
3/13 |
Hyperactivity |
23.1% |
3/13 |
Sleep disturbance |
15.4% |
2/13 |
Abnormal aggressive, impulsive or violent behavior |
7.7% |
1/13 |
Apathy |
7.7% |
1/13 |
Brain abnormality |
57.1% |
8/14 |
Microcephaly |
42.9% |
6/14 |
Abnormality of the corpus callosum |
7.1% |
1/14 |
Abnormal myelination |
7.1% |
1/14 |
Abnormality of the cerebellar vermis |
7.1% |
1/14 |
Aplasia/Hypoplasia of the corpus callosum |
7.1% |
1/14 |
Brain atrophy |
7.1% |
1/14 |
Dilation of lateral ventricles |
7.1% |
1/14 |
Facial abnormalities |
|
|
Abnormality of the ear |
71.4% |
5/7 |
Abnormality of the auditory canal |
14.3% |
1/7 |
Absent earlobe |
14.3% |
1/7 |
Anteverted ears |
14.3% |
1/7 |
Large fleshy ears |
14.3% |
1/7 |
Prominent ear helix |
14.3% |
1/7 |
Abnormality of the eye |
100.0% |
7/7 |
Deeply set eye |
57.1% |
4/7 |
Downslanted palpebral fissures |
28.6% |
2/7 |
Long eyelashes |
28.6% |
2/7 |
Hypertelorism |
14.3% |
1/7 |
Periorbital fullness |
14.3% |
1/7 |
Proptosis |
14.3% |
1/7 |
Strabismus |
14.3% |
1/7 |
Abnormality of the nose |
100.0% |
6/6 |
Prominent nasal bridge |
50.0% |
3/6 |
Abnormality of the columella |
16.7% |
1/6 |
Narrow nose |
16.7% |
1/6 |
Prominent nose |
16.7% |
1/6 |
Short philtrum |
16.7% |
1/6 |
Short nose |
16.7% |
1/6 |
Abnormality of the mouth |
71.4% |
5/7 |
Tented upper lip vermilion |
28.6% |
2/7 |
Wide mouth |
28.6% |
2/7 |
Abnormality of the teeth |
14.3% |
1/7 |
Ankyloglossia |
14.3% |
1/7 |
High, narrow palate |
14.3% |
1/7 |
Overbite |
14.3% |
1/7 |
Visual and hearing impairments |
|
|
Abnormal hearing |
9.1% |
1/11 |
Hearing impairment |
9.1% |
1/11 |
Abnormal vision |
27.3% |
3/11 |
Abnormality of vision |
9.1% |
1/11 |
Astigmatism |
9.1% |
1/11 |
Posterior vitreous detachment |
9.1% |
1/11 |
Heart |
|
|
Abnormality of the heart |
15.4% |
2/13 |
Aortic regurgitation |
7.7% |
1/13 |
Thoracic aorta calcification |
7.7% |
1/13 |
Ventricular septal defect |
7.7% |
1/13 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
26.7% |
4/15 |
Gastroesophageal reflux |
13.3% |
2/15 |
Abnormality of the intestine |
6.7% |
1/15 |
Feeding difficulties |
6.7% |
1/15 |
Feeding difficulties in infancy |
6.7% |
1/15 |
Urogenital |
|
|
Abnormality of the urogenital system |
7.7% |
1/13 |
Hydrocele testis |
7.7% |
1/13 |
Skeleton |
|
|
Skeletal abnormalities |
73.3% |
11/15 |
Abnormality of the foot |
26.7% |
4/15 |
Long hallux |
13.3% |
2/15 |
Pes cavus |
13.3% |
2/15 |
Short toe |
13.3% |
2/15 |
2-4 toe cutaneous syndactyly |
13.3% |
2/15 |
Arachnodactyly |
6.7% |
1/15 |
Bowing of the legs |
6.7% |
1/15 |
Camptodactyly of toe |
6.7% |
1/15 |
Clinodactyly of the 4th finger |
6.7% |
1/15 |
Clinodactyly of the 5th toe |
6.7% |
1/15 |
Clinodactyly of the 4th toe |
6.7% |
1/15 |
Clinodactyly of the 5th finger |
6.7% |
1/15 |
Cutaneous finger syndactyly |
6.7% |
1/15 |
Exostoses |
6.7% |
1/15 |
Hallux valgus |
6.7% |
1/15 |
Hyperlordosis |
6.7% |
1/15 |
Kyphoscoliosis |
6.7% |
1/15 |
Kyphosis |
6.7% |
1/15 |
Osteochondrosis |
6.7% |
1/15 |
Pectus excavatum |
6.7% |
1/15 |
Scoliosis |
6.7% |
1/15 |
Small hand |
6.7% |
1/15 |
Spina bifida |
6.7% |
1/15 |
2-3 finger syndactyly |
6.7% |
1/15 |
2-3 toe syndactyly |
6.7% |
1/15 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
26.7% |
4/15 |
Delayed eruption of permanent teeth |
6.7% |
1/15 |
Delayed eruption of teeth |
6.7% |
1/15 |
Eczema |
6.7% |
1/15 |
Increased number of teeth |
6.7% |
1/15 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the metabolic system |
7.7% |
1/13 |
Gastroesophageal reflux |
7.7% |
1/13 |