| Gender |
|
|
| Male |
56.5% |
13/23 |
| Female |
43.5% |
10/23 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/23 |
| Birth Weight abnormalities |
4.3% |
1/23 |
| < P3 : Small for gestational age |
4.3% |
1/23 |
| Birth Head circumference abnormalities |
0% |
0/23 |
| Current Height abnormalities |
4.3% |
1/23 |
| < P3 : Short stature |
4.3% |
1/23 |
| Current Weight abnormalities |
21.7% |
5/23 |
| > P98 : Increased body weight |
8.7% |
2/23 |
| < P3 : Decreased body weight |
13.0% |
3/23 |
| Current Head circumference abnormalities |
17.4% |
4/23 |
| < P3 : Microcephaly |
13.0% |
3/23 |
| > P98 : Macrocephaly |
4.3% |
1/23 |
| Neurology |
|
|
| Neurological abnormalities |
81.8% |
18/22 |
| Poor speech |
31.8% |
7/22 |
| Global developmental delay |
27.3% |
6/22 |
| Severe expressive language delay |
22.7% |
5/22 |
| Generalized hypotonia |
13.6% |
3/22 |
| Mild receptive language delay |
13.6% |
3/22 |
| Absent speech |
9.1% |
2/22 |
| Febrile seizures |
9.1% |
2/22 |
| Seizures |
9.1% |
2/22 |
| Absence seizures |
4.5% |
1/22 |
| Ataxia |
4.5% |
1/22 |
| Delayed speech and language development |
4.5% |
1/22 |
| Facial paralysis |
4.5% |
1/22 |
| Generalized muscle hypertrophy |
4.5% |
1/22 |
| Generalized seizures |
4.5% |
1/22 |
| Generalized tonic seizures |
4.5% |
1/22 |
| Hand tremor |
4.5% |
1/22 |
| Hypertonia |
4.5% |
1/22 |
| Hypomimic face |
4.5% |
1/22 |
| Language impairment |
4.5% |
1/22 |
| Lower limb spasticity |
4.5% |
1/22 |
| Mild expressive language delay |
4.5% |
1/22 |
| Behavioral problems |
95.2% |
20/21 |
| Attention deficit hyperactivity disorder |
38.1% |
8/21 |
| Short attention span |
38.1% |
8/21 |
| Abnormal aggressive, impulsive or violent behavior |
23.8% |
5/21 |
| Anxiety |
14.3% |
3/21 |
| Hyperactivity |
14.3% |
3/21 |
| Aggressive behavior |
9.5% |
2/21 |
| Autistic behavior |
9.5% |
2/21 |
| Global developmental delay |
9.5% |
2/21 |
| Impulsivity |
9.5% |
2/21 |
| Obsessive-compulsive behavior |
9.5% |
2/21 |
| Abnormal fear/anxiety-related behavior |
4.8% |
1/21 |
| Apathy |
4.8% |
1/21 |
| Autism |
4.8% |
1/21 |
| Behavioral abnormality |
4.8% |
1/21 |
| Enuresis |
4.8% |
1/21 |
| Low frustration tolerance |
4.8% |
1/21 |
| Oral aversion |
4.8% |
1/21 |
| Sleep disturbance |
4.8% |
1/21 |
| Brain abnormality |
17.6% |
3/17 |
| Abnormal myelination |
5.9% |
1/17 |
| Arachnoid cyst |
5.9% |
1/17 |
| EEG abnormality |
5.9% |
1/17 |
| EEG with generalized epileptiform discharges |
5.9% |
1/17 |
| Hypoplasia of the corpus callosum |
5.9% |
1/17 |
| Microcephaly |
5.9% |
1/17 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
60.0% |
12/20 |
| Low-set ears |
20.0% |
4/20 |
| Posteriorly rotated ears |
10.0% |
2/20 |
| Small earlobe |
10.0% |
2/20 |
| Abnormality of the outer ear |
5.0% |
1/20 |
| Abnormally folded helix |
5.0% |
1/20 |
| Anteverted ears |
5.0% |
1/20 |
| Large fleshy ears |
5.0% |
1/20 |
| Macrotia |
5.0% |
1/20 |
| Overfolded helix |
5.0% |
1/20 |
| Prominent antihelix |
5.0% |
1/20 |
| Protruding ear |
5.0% |
1/20 |
| Uplifted earlobe |
5.0% |
1/20 |
| Abnormality of the eye |
81.8% |
18/22 |
| Ptosis |
31.8% |
7/22 |
| Hypertelorism |
27.3% |
6/22 |
| Downslanted palpebral fissures |
22.7% |
5/22 |
| Blepharophimosis |
13.6% |
3/22 |
| Deeply set eye |
9.1% |
2/22 |
| Periorbital fullness |
9.1% |
2/22 |
| Prominent epicanthal folds |
9.1% |
2/22 |
| Abnormal size of the palpebral fissures |
4.5% |
1/22 |
| Bilateral ptosis |
4.5% |
1/22 |
| Epicanthus |
4.5% |
1/22 |
| Infra-orbital fold |
4.5% |
1/22 |
| Long eyelashes |
4.5% |
1/22 |
| Shallow orbits |
4.5% |
1/22 |
| Strabismus |
4.5% |
1/22 |
| Telecanthus |
4.5% |
1/22 |
| Abnormality of the nose |
52.2% |
12/23 |
| Broad nasal tip |
17.4% |
4/23 |
| Wide nasal bridge |
13.0% |
3/23 |
| Prominent nasal tip |
8.7% |
2/23 |
| Abnormality of the nasal tip |
4.3% |
1/23 |
| Broad philtrum |
4.3% |
1/23 |
| Depressed nasal bridge |
4.3% |
1/23 |
| Long nose |
4.3% |
1/23 |
| Narrow naris |
4.3% |
1/23 |
| Prominent nasal bridge |
4.3% |
1/23 |
| Prominent nose |
4.3% |
1/23 |
| Abnormality of the mouth |
63.6% |
14/22 |
| Thin upper lip vermilion |
22.7% |
5/22 |
| High palate |
18.2% |
4/22 |
| Long philtrum |
13.6% |
3/22 |
| Ankyloglossia |
9.1% |
2/22 |
| Narrow mouth |
9.1% |
2/22 |
| Smooth philtrum |
9.1% |
2/22 |
| Thick lower lip vermilion |
9.1% |
2/22 |
| Broad philtrum |
4.5% |
1/22 |
| Broad alveolar ridges |
4.5% |
1/22 |
| Misalignment of teeth |
4.5% |
1/22 |
| Oligodontia |
4.5% |
1/22 |
| Short philtrum |
4.5% |
1/22 |
| Tented upper lip vermilion |
4.5% |
1/22 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
7.1% |
1/14 |
| Adult onset sensorineural hearing impairment |
7.1% |
1/14 |
| Abnormal vision |
57.1% |
8/14 |
| Hypermetropia |
21.4% |
3/14 |
| Abnormality of refraction |
7.1% |
1/14 |
| Abnormality of binocular vision |
7.1% |
1/14 |
| Amblyopia |
7.1% |
1/14 |
| Astigmatism |
7.1% |
1/14 |
| Exotropia |
7.1% |
1/14 |
| Myopia |
7.1% |
1/14 |
| Pulmonary |
|
|
| Abnormality of the lungs |
16.7% |
1/6 |
| Tracheomalacia |
16.7% |
1/6 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
18.8% |
3/16 |
| Abnormality of the anus |
6.3% |
1/16 |
| Abnormality of the intestine |
6.3% |
1/16 |
| Celiac disease |
6.3% |
1/16 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
21.4% |
3/14 |
| Abnormality of the kidney |
7.1% |
1/14 |
| Bilateral cryptorchidism |
7.1% |
1/14 |
| Hydronephrosis |
7.1% |
1/14 |
| Shawl scrotum |
7.1% |
1/14 |
| Spastic/hyperactive bladder |
7.1% |
1/14 |
| Skeleton |
|
|
| Skeletal abnormalities |
43.8% |
7/16 |
| Clinodactyly of the 5th finger |
12.5% |
2/16 |
| Toe clinodactyly |
12.5% |
2/16 |
| Abnormality of the skull |
6.3% |
1/16 |
| Broad hallux |
6.3% |
1/16 |
| Delayed skeletal maturation |
6.3% |
1/16 |
| Long fingers |
6.3% |
1/16 |
| Long toe |
6.3% |
1/16 |
| Narrow chest |
6.3% |
1/16 |
| Pectus excavatum |
6.3% |
1/16 |
| Prominent interdigital folds |
6.3% |
1/16 |
| Short finger |
6.3% |
1/16 |
| Short toe |
6.3% |
1/16 |
| Thoracic kyphosis |
6.3% |
1/16 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
57.1% |
12/21 |
| Cafe-au-lait spot |
19.0% |
4/21 |
| Eczema |
9.5% |
2/21 |
| Abnormality of the hairline |
4.8% |
1/21 |
| Absent fourth finger distal interphalangeal crease |
4.8% |
1/21 |
| Brittle hair |
4.8% |
1/21 |
| Dry skin |
4.8% |
1/21 |
| Few cafe-au-lait spots |
4.8% |
1/21 |
| Hirsutism |
4.8% |
1/21 |
| Localized hirsutism |
4.8% |
1/21 |
| Naevus flammeus of the eyelid |
4.8% |
1/21 |
| Nail-biting |
4.8% |
1/21 |
| 2-3 finger syndactyly |
4.8% |
1/21 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
11.8% |
2/17 |
| Microcytic anemia |
5.9% |
1/17 |
| Type II diabetes mellitus |
5.9% |
1/17 |
| Abnormality of the immune system |
6.3% |
1/16 |
| Cow milk allergy |
6.3% |
1/16 |