| Gender |
|
|
| Male |
53.3% |
8/15 |
| Female |
46.7% |
7/15 |
| General |
|
|
| Birth Length abnormalities |
13.3% |
2/15 |
| < P3 : Birth length less than 3rd percentile |
13.3% |
2/15 |
| Birth Weight abnormalities |
46.7% |
7/15 |
| < P3 : Small for gestational age |
46.7% |
7/15 |
| Birth Head circumference abnormalities |
0% |
0/15 |
| Current Height abnormalities |
26.7% |
4/15 |
| < P3 : Short stature |
26.7% |
4/15 |
| Current Weight abnormalities |
13.3% |
2/15 |
| < P3 : Decreased body weight |
13.3% |
2/15 |
| Current Head circumference abnormalities |
26.7% |
4/15 |
| < P3 : Microcephaly |
26.7% |
4/15 |
| Neurology |
|
|
| Neurological abnormalities |
93.3% |
14/15 |
| Muscular hypotonia |
53.3% |
8/15 |
| Hypertonia |
26.7% |
4/15 |
| Obstructive sleep apnea |
20.0% |
3/15 |
| Poor coordination |
20.0% |
3/15 |
| Seizures |
20.0% |
3/15 |
| Sleep disturbance |
13.3% |
2/15 |
| Spastic diplegia |
13.3% |
2/15 |
| Torticollis |
13.3% |
2/15 |
| Choreoathetosis |
6.7% |
1/15 |
| Dysarthria |
6.7% |
1/15 |
| EEG abnormality |
6.7% |
1/15 |
| Facial hypotonia |
6.7% |
1/15 |
| Gait disturbance |
6.7% |
1/15 |
| Gait imbalance |
6.7% |
1/15 |
| Myopathic facies |
6.7% |
1/15 |
| Behavioral problems |
71.4% |
10/14 |
| Absent speech |
28.6% |
4/14 |
| Anxiety |
14.3% |
2/14 |
| Attention deficit hyperactivity disorder |
14.3% |
2/14 |
| Poor eye contact |
14.3% |
2/14 |
| Autism |
7.1% |
1/14 |
| Autistic behavior |
7.1% |
1/14 |
| Clumsiness |
7.1% |
1/14 |
| Impaired social interactions |
7.1% |
1/14 |
| Impulsivity |
7.1% |
1/14 |
| Self-injurious behavior |
7.1% |
1/14 |
| Short attention span |
7.1% |
1/14 |
| Shyness |
7.1% |
1/14 |
| Sleep disturbance |
7.1% |
1/14 |
| Stereotypic behavior |
7.1% |
1/14 |
| Brain abnormality |
80.0% |
12/15 |
| Abnormality of the cerebral white matter |
66.7% |
10/15 |
| Polymicrogyria |
26.7% |
4/15 |
| Ventriculomegaly |
20.0% |
3/15 |
| Abnormal cortical gyration |
6.7% |
1/15 |
| Abnormality of the fourth ventricle |
6.7% |
1/15 |
| Abnormality of the third ventricle |
6.7% |
1/15 |
| Aplasia/Hypoplasia of the corpus callosum |
6.7% |
1/15 |
| Cavum septum pellucidum |
6.7% |
1/15 |
| Cerebellar vermis hypoplasia |
6.7% |
1/15 |
| Perisylvian polymicrogyria |
6.7% |
1/15 |
| Perivascular spaces |
6.7% |
1/15 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
100.0% |
15/15 |
| Satyr ear |
80.0% |
12/15 |
| Low-set ears |
66.7% |
10/15 |
| Aplasia/Hypoplasia of the external ear |
46.7% |
7/15 |
| Small earlobe |
13.3% |
2/15 |
| Angulated antihelix |
6.7% |
1/15 |
| Cleft helix |
6.7% |
1/15 |
| Crumpled ear |
6.7% |
1/15 |
| Low-set, posteriorly rotated ears |
6.7% |
1/15 |
| Protruding ear |
6.7% |
1/15 |
| Small palpebral fissure |
6.7% |
1/15 |
| Stenosis of the external auditory canal |
6.7% |
1/15 |
| Underdeveloped antitragus |
6.7% |
1/15 |
| Abnormality of the eye |
100.0% |
14/14 |
| Periorbital fullness |
85.7% |
12/14 |
| Small palpebral fissure |
78.6% |
11/14 |
| Short palpebral fissure |
21.4% |
3/14 |
| Downslanted palpebral fissures |
14.3% |
2/14 |
| Abnormality of the eyelid |
7.1% |
1/14 |
| Blepharophimosis |
7.1% |
1/14 |
| Epicanthus |
7.1% |
1/14 |
| Hypertelorism |
7.1% |
1/14 |
| Telecanthus |
7.1% |
1/14 |
| Upslanted palpebral fissure |
7.1% |
1/14 |
| Abnormality of the nose |
80.0% |
12/15 |
| Prominent nasal tip |
66.7% |
10/15 |
| Anteverted nares |
13.3% |
2/15 |
| Depressed nasal bridge |
6.7% |
1/15 |
| Abnormality of the mouth |
86.7% |
13/15 |
| Narrow mouth |
53.3% |
8/15 |
| Mandibular prognathia |
46.7% |
7/15 |
| High palate |
40.0% |
6/15 |
| Thin upper lip vermilion |
33.3% |
5/15 |
| Dental malocclusion |
26.7% |
4/15 |
| Downturned corners of mouth |
20.0% |
3/15 |
| Dental crowding |
13.3% |
2/15 |
| Microdontia |
13.3% |
2/15 |
| Bifid uvula |
6.7% |
1/15 |
| Misalignment of teeth |
6.7% |
1/15 |
| Open mouth |
6.7% |
1/15 |
| Osteolysis |
6.7% |
1/15 |
| Widely spaced teeth |
6.7% |
1/15 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
80.0% |
8/10 |
| Conductive hearing impairment |
60.0% |
6/10 |
| Hearing impairment |
10.0% |
1/10 |
| Mild conductive hearing impairment |
10.0% |
1/10 |
| Sensorineural hearing impairment |
10.0% |
1/10 |
| Abnormal vision |
35.7% |
5/14 |
| Astigmatism |
14.3% |
2/14 |
| Exotropia |
14.3% |
2/14 |
| Anisometropia |
7.1% |
1/14 |
| Hypermetropia |
7.1% |
1/14 |
| Photophobia |
7.1% |
1/14 |
| Strabismus |
7.1% |
1/14 |
| Heart |
|
|
| Abnormality of the heart |
85.7% |
12/14 |
| Patent ductus arteriosus |
35.7% |
5/14 |
| Abnormality of the atrial septum |
21.4% |
3/14 |
| Aortic root dilatation |
14.3% |
2/14 |
| Aortic dilatation |
14.3% |
2/14 |
| Abnormality of the left ventricle |
7.1% |
1/14 |
| Aortic regurgitation |
7.1% |
1/14 |
| Ascending aortic dilation |
7.1% |
1/14 |
| Atria septal defect |
7.1% |
1/14 |
| Dilatation of the ascending aorta |
7.1% |
1/14 |
| Mitral valve prolapse |
7.1% |
1/14 |
| Mitral regurgitation |
7.1% |
1/14 |
| Pulmonary insufficiency |
7.1% |
1/14 |
| Secundum atrial septal defect |
7.1% |
1/14 |
| Supraventricular tachycardia |
7.1% |
1/14 |
| Syncope |
7.1% |
1/14 |
| Tricuspid regurgitation |
7.1% |
1/14 |
| Tricuspid valve prolapse |
7.1% |
1/14 |
| Pulmonary |
|
|
| Abnormality of the lungs |
14.3% |
2/14 |
| Congenital diaphragmatic hernia |
14.3% |
2/14 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
85.7% |
12/14 |
| Constipation |
57.1% |
8/14 |
| Gastroesophageal reflux |
50.0% |
7/14 |
| Bowel incontinence |
14.3% |
2/14 |
| Allergy |
7.1% |
1/14 |
| Chronic constipation |
7.1% |
1/14 |
| Drooling |
7.1% |
1/14 |
| Feeding difficulties in infancy |
7.1% |
1/14 |
| Urinary incontinence |
7.1% |
1/14 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
28.6% |
4/14 |
| Cryptorchidism |
21.4% |
3/14 |
| Duplicated collecting system |
7.1% |
1/14 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
14/14 |
| Thoracic kyphosis |
21.4% |
3/14 |
| Arachnodactyly |
14.3% |
2/14 |
| Long thorax |
14.3% |
2/14 |
| Overlapping toe |
14.3% |
2/14 |
| Pectus excavatum |
14.3% |
2/14 |
| Vertebral hypoplasia |
14.3% |
2/14 |
| Abnormality of the hallux |
7.1% |
1/14 |
| Adducted thumb |
7.1% |
1/14 |
| Calcaneovalgus deformity |
7.1% |
1/14 |
| Camptodactyly of 2nd-5th fingers |
7.1% |
1/14 |
| Contractures involving the joints of the feet |
7.1% |
1/14 |
| Coxa valga |
7.1% |
1/14 |
| Delayed epiphyseal ossification |
7.1% |
1/14 |
| Delayed skeletal maturation |
7.1% |
1/14 |
| Flexion contracture of 3rd toe |
7.1% |
1/14 |
| Flexion contracture of the 4th toe |
7.1% |
1/14 |
| Hyperlordosis |
7.1% |
1/14 |
| Increased vertebral height |
7.1% |
1/14 |
| Kyphoscoliosis |
7.1% |
1/14 |
| Long toe |
7.1% |
1/14 |
| Lumbar hyperlordosis |
7.1% |
1/14 |
| Marked delay in bone age |
7.1% |
1/14 |
| Metatarsus adductus |
7.1% |
1/14 |
| Narrow chest |
7.1% |
1/14 |
| Narrow palm |
7.1% |
1/14 |
| Pectus carinatum |
7.1% |
1/14 |
| Pes cavus |
7.1% |
1/14 |
| Pes planus |
7.1% |
1/14 |
| Plantar flexion contractures |
7.1% |
1/14 |
| Prominent proximal interphalangeal joints |
7.1% |
1/14 |
| Pseudoepiphyses of the metacarpals |
7.1% |
1/14 |
| Sacral segmentation defect |
7.1% |
1/14 |
| Scoliosis |
7.1% |
1/14 |
| Short foot |
7.1% |
1/14 |
| Single transverse palmar crease |
7.1% |
1/14 |
| Slender long bone |
7.1% |
1/14 |
| Small hand |
7.1% |
1/14 |
| Tapered finger |
7.1% |
1/14 |
| Tapering pointed ends of distal finger phalanges |
7.1% |
1/14 |
| Thoracolumbar kyphosis |
7.1% |
1/14 |
| Thoracic scoliosis |
7.1% |
1/14 |
| Toe clinodactyly |
7.1% |
1/14 |
| Valgus foot deformity |
7.1% |
1/14 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
13/13 |
| Sparse scalp hair |
100.0% |
13/13 |
| Hemangioma |
15.4% |
2/13 |
| Long eyelashes |
15.4% |
2/13 |
| Melanocytic nevus |
15.4% |
2/13 |
| Dystrophic toenail |
7.7% |
1/13 |
| Facial hemangioma |
7.7% |
1/13 |
| Lumbar hypertrichosis |
7.7% |
1/13 |
| Medial flaring of the eyebrow |
7.7% |
1/13 |
| Redundant neck skin |
7.7% |
1/13 |
| Synophrys |
7.7% |
1/13 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
7.1% |
1/14 |
| Dehydration |
7.1% |
1/14 |
| Hypoglycemia |
7.1% |
1/14 |
| Metabolic acidosis |
7.1% |
1/14 |
| Abnormality of the immune system |
35.7% |
5/14 |
| Recurrent respiratory infections |
28.6% |
4/14 |
| Otitis media |
7.1% |
1/14 |
| Recurrent otitis media |
7.1% |
1/14 |