| Gender |
|
|
| Male |
63.4% |
26/41 |
| Female |
36.6% |
15/41 |
| Indifferent |
0% |
0/41 |
| Unknown |
0% |
0/41 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/41 |
| Birth Weight abnormalities |
7.3% |
3/41 |
| > P98 : Large for gestational age |
2.4% |
1/41 |
| < P3 : Small for gestational age |
4.9% |
2/41 |
| Birth Head circumference abnormalities |
9.8% |
4/41 |
| > P98 : Macrocephaly at birth |
9.8% |
4/41 |
| Current Height abnormalities |
14.6% |
6/41 |
| < P3 : Short stature |
12.2% |
5/41 |
| > P98 : Tall stature |
2.4% |
1/41 |
| Current Weight abnormalities |
12.2% |
5/41 |
| > P98 : Increased body weight |
4.9% |
2/41 |
| < P3 : Decreased body weight |
7.3% |
3/41 |
| Current Head circumference abnormalities |
29.3% |
12/41 |
| > P98 : Macrocephaly |
29.3% |
12/41 |
| Neurology |
|
|
| Neurological abnormalities |
97.5% |
39/40 |
| Muscular hypotonia |
77.5% |
31/40 |
| Progressive spasticity |
22.5% |
9/40 |
| Lower limb hyperreflexia |
20.0% |
8/40 |
| Spasticity |
17.5% |
7/40 |
| Ataxia |
12.5% |
5/40 |
| Seizures |
12.5% |
5/40 |
| Dystonia |
10.0% |
4/40 |
| Hypokinesia |
10.0% |
4/40 |
| Abnormality of movement |
5.0% |
2/40 |
| Muscular hypotonia of the trunk |
5.0% |
2/40 |
| Sleep disturbance |
5.0% |
2/40 |
| Anarthria |
2.5% |
1/40 |
| Bradykinesia |
2.5% |
1/40 |
| Cerebral palsy |
2.5% |
1/40 |
| Decreased facial expression |
2.5% |
1/40 |
| Dysarthria |
2.5% |
1/40 |
| Dysphagia |
2.5% |
1/40 |
| Dyspnea |
2.5% |
1/40 |
| Generalized dystonia |
2.5% |
1/40 |
| Infantile axial hypotonia |
2.5% |
1/40 |
| Infantile muscular hypotonia |
2.5% |
1/40 |
| Nystagmus |
2.5% |
1/40 |
| Obstructive sleep apnea |
2.5% |
1/40 |
| Optic neuritis |
2.5% |
1/40 |
| Poor eye contact |
2.5% |
1/40 |
| Poor coordination |
2.5% |
1/40 |
| Progressive spastic paraparesis |
2.5% |
1/40 |
| Speech apraxia |
2.5% |
1/40 |
| Behavioral problems |
66.7% |
22/33 |
| Autism |
27.3% |
9/33 |
| Behavioral abnormality |
27.3% |
9/33 |
| Anxiety |
9.1% |
3/33 |
| Attention deficit hyperactivity disorder |
9.1% |
3/33 |
| Obsessive-compulsive behavior |
6.1% |
2/33 |
| Autistic behavior |
3.0% |
1/33 |
| Hair-pulling |
3.0% |
1/33 |
| Recurrent hand flapping |
3.0% |
1/33 |
| Self-injurious behavior |
3.0% |
1/33 |
| Brain abnormality |
54.2% |
13/24 |
| Dilation of lateral ventricles |
25.0% |
6/24 |
| Inferior vermis hypoplasia |
20.8% |
5/24 |
| Ventriculomegaly |
20.8% |
5/24 |
| Aplasia of the inferior half of the cerebellar vermis |
12.5% |
3/24 |
| Perivascular spaces |
8.3% |
2/24 |
| Periventricular leukomalacia |
8.3% |
2/24 |
| Cerebellar vermis hypoplasia |
4.2% |
1/24 |
| Colpocephaly |
4.2% |
1/24 |
| Encephalopathy |
4.2% |
1/24 |
| Hydrocephalus |
4.2% |
1/24 |
| Periventricular cysts |
4.2% |
1/24 |
| Suprasellar arachnoid cyst |
4.2% |
1/24 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
63.2% |
24/38 |
| Abnormality of the pinna |
34.2% |
13/38 |
| Low-set ears |
23.7% |
9/38 |
| Low-set, posteriorly rotated ears |
5.3% |
2/38 |
| Microtia |
5.3% |
2/38 |
| Overfolded helix |
5.3% |
2/38 |
| Preauricular skin tag |
5.3% |
2/38 |
| Thickened helices |
5.3% |
2/38 |
| Abnormality of the helix |
2.6% |
1/38 |
| Anteverted ears |
2.6% |
1/38 |
| Macrotia |
2.6% |
1/38 |
| Overfolding of the superior helices |
2.6% |
1/38 |
| Posteriorly rotated ears |
2.6% |
1/38 |
| Prominent antihelix |
2.6% |
1/38 |
| Protruding ear |
2.6% |
1/38 |
| Abnormality of the eye |
76.9% |
30/39 |
| Prominent epicanthal folds |
43.6% |
17/39 |
| Downslanted palpebral fissures |
35.9% |
14/39 |
| Telecanthus |
30.8% |
12/39 |
| Hypertelorism |
12.8% |
5/39 |
| Deeply set eye |
7.7% |
3/39 |
| Long eyelashes |
5.1% |
2/39 |
| Abnormality of the eyebrow |
2.6% |
1/39 |
| Abnormality of the retina |
2.6% |
1/39 |
| Infra-orbital crease |
2.6% |
1/39 |
| Periorbital fullness |
2.6% |
1/39 |
| Thick eyebrow |
2.6% |
1/39 |
| Abnormality of the nose |
44.7% |
17/38 |
| Wide nasal bridge |
36.8% |
14/38 |
| Anteverted nares |
15.8% |
6/38 |
| Bulbous nose |
2.6% |
1/38 |
| Choanal stenosis |
2.6% |
1/38 |
| Long nose |
2.6% |
1/38 |
| Thick nasal alae |
2.6% |
1/38 |
| Abnormality of the mouth |
79.5% |
31/39 |
| Downturned corners of mouth |
33.3% |
13/39 |
| Smooth philtrum |
20.5% |
8/39 |
| Retrognathia |
17.9% |
7/39 |
| High palate |
7.7% |
3/39 |
| Tented upper lip vermilion |
7.7% |
3/39 |
| Thin upper lip vermilion |
7.7% |
3/39 |
| Dental crowding |
5.1% |
2/39 |
| Long philtrum |
5.1% |
2/39 |
| Protruding tongue |
5.1% |
2/39 |
| Cleft palate |
2.6% |
1/39 |
| Furrowed tongue |
2.6% |
1/39 |
| Microdontia |
2.6% |
1/39 |
| Narrow mouth |
2.6% |
1/39 |
| Short philtrum |
2.6% |
1/39 |
| Thick vermilion border |
2.6% |
1/39 |
| U-Shaped upper lip vermilion |
2.6% |
1/39 |
| Widely spaced teeth |
2.6% |
1/39 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
23.7% |
9/38 |
| Sensorineural hearing impairment |
10.5% |
4/38 |
| Conductive hearing impairment |
7.9% |
3/38 |
| Hearing impairment |
5.3% |
2/38 |
| Bilateral sensorineural hearing impairment |
2.6% |
1/38 |
| Abnormal vision |
50.0% |
11/22 |
| Exotropia |
13.6% |
3/22 |
| Strabismus |
13.6% |
3/22 |
| Visual impairment |
9.1% |
2/22 |
| Amblyopia |
4.5% |
1/22 |
| Anisocoria |
4.5% |
1/22 |
| Esotropia |
4.5% |
1/22 |
| Hypermetropia |
4.5% |
1/22 |
| Lacrimal duct stenosis |
4.5% |
1/22 |
| Myopia |
4.5% |
1/22 |
| Heart |
|
|
| Abnormality of the heart |
11.8% |
4/34 |
| Abnormality of the cardiovascular system |
2.9% |
1/34 |
| Aortic root dilatation |
2.9% |
1/34 |
| Atria septal defect |
2.9% |
1/34 |
| Patent foramen ovale |
2.9% |
1/34 |
| Pulmonic stenosis |
2.9% |
1/34 |
| Supraventricular tachycardia |
2.9% |
1/34 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
78.9% |
30/38 |
| Constipation |
44.7% |
17/38 |
| Gastroesophageal reflux |
31.6% |
12/38 |
| Feeding difficulties |
28.9% |
11/38 |
| Abdominal distention |
7.9% |
3/38 |
| Feeding difficulties in infancy |
7.9% |
3/38 |
| Vomiting |
5.3% |
2/38 |
| Celiac disease |
2.6% |
1/38 |
| Chronic constipation |
2.6% |
1/38 |
| Esophagitis |
2.6% |
1/38 |
| Gastritis |
2.6% |
1/38 |
| Rectal prolapse |
2.6% |
1/38 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
17.6% |
6/34 |
| Cryptorchidism |
2.9% |
1/34 |
| Hydroureter |
2.9% |
1/34 |
| Hydronephrosis |
2.9% |
1/34 |
| Ureteropelvic junction obstruction |
2.9% |
1/34 |
| Urinary retention |
2.9% |
1/34 |
| Skeleton |
|
|
| Skeletal abnormalities |
72.2% |
26/36 |
| Short palm |
13.9% |
5/36 |
| Abnormality of the palmar creases |
11.1% |
4/36 |
| Pes planus |
11.1% |
4/36 |
| Tapered finger |
11.1% |
4/36 |
| Short foot |
8.3% |
3/36 |
| Short neck |
8.3% |
3/36 |
| Clinodactyly |
5.6% |
2/36 |
| Pectus carinatum |
5.6% |
2/36 |
| Plagiocephaly |
5.6% |
2/36 |
| Adducted thumb |
2.8% |
1/36 |
| Arachnodactyly |
2.8% |
1/36 |
| Broad foot |
2.8% |
1/36 |
| Camptodactyly |
2.8% |
1/36 |
| Flexion contracture of thumb |
2.8% |
1/36 |
| Flexion contracture |
2.8% |
1/36 |
| Kyphosis |
2.8% |
1/36 |
| Limb undergrowth |
2.8% |
1/36 |
| Metaphyseal dysplasia |
2.8% |
1/36 |
| Rhizomelia |
2.8% |
1/36 |
| Short stature |
2.8% |
1/36 |
| Slender toe |
2.8% |
1/36 |
| Thoracic kyphosis |
2.8% |
1/36 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
54.3% |
19/35 |
| Thick hair |
28.6% |
10/35 |
| Eczema |
8.6% |
3/35 |
| Nevus |
8.6% |
3/35 |
| Blepharitis |
2.9% |
1/35 |
| Bruising susceptibility |
2.9% |
1/35 |
| Facial erythema |
2.9% |
1/35 |
| Freckling |
2.9% |
1/35 |
| Hemangioma |
2.9% |
1/35 |
| Hypermelanotic macule |
2.9% |
1/35 |
| Hyperhidrosis |
2.9% |
1/35 |
| Hypoplastic nipples |
2.9% |
1/35 |
| Pallor |
2.9% |
1/35 |
| Short nail |
2.9% |
1/35 |