| Gender |
|
|
| Male |
63.6% |
35/55 |
| Female |
36.4% |
20/55 |
| Indifferent |
0% |
0/55 |
| Unknown |
0% |
0/55 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/41 |
| Birth Weight abnormalities |
7.3% |
4/55 |
| < P3 : Small for gestational age |
5.5% |
3/55 |
| > P98 : Large for gestational age |
1.8% |
1/55 |
| Birth Head circumference abnormalities |
0% |
0/42 |
| Current Height abnormalities |
45.5% |
25/55 |
| < P3 : Short stature |
45.5% |
25/55 |
| Current Weight abnormalities |
29.1% |
16/55 |
| > P98 : Increased body weight |
7.3% |
4/55 |
| < P3 : Decreased body weight |
21.8% |
12/55 |
| Current Head circumference abnormalities |
23.6% |
13/55 |
| < P3 : Microcephaly |
18.2% |
10/55 |
| > P98 : Macrocephaly |
5.5% |
3/55 |
| Neurology |
|
|
| Neurological abnormalities |
88.7% |
47/53 |
| Muscular hypotonia |
47.2% |
25/53 |
| Sleep disturbance |
26.4% |
14/53 |
| Abnormality of pain sensation |
22.6% |
12/53 |
| Generalized hypotonia |
22.6% |
12/53 |
| Hyperacusis |
22.6% |
12/53 |
| Global developmental delay |
17.0% |
9/53 |
| Impaired pain sensation |
11.3% |
6/53 |
| Tremor |
11.3% |
6/53 |
| Broad-based gait |
9.4% |
5/53 |
| Febrile seizures |
3.8% |
2/53 |
| Pain insensitivity |
3.8% |
2/53 |
| Seizures |
3.8% |
2/53 |
| Absence seizures |
1.9% |
1/53 |
| Dyscalculia |
1.9% |
1/53 |
| Dyslexia |
1.9% |
1/53 |
| Exaggerated startle response |
1.9% |
1/53 |
| Inappropriate behavior |
1.9% |
1/53 |
| Migraine |
1.9% |
1/53 |
| Moderate global developmental delay |
1.9% |
1/53 |
| Poor speech |
1.9% |
1/53 |
| Specific learning disability |
1.9% |
1/53 |
| Speech apraxia |
1.9% |
1/53 |
| Speech articulation difficulties |
1.9% |
1/53 |
| Behavioral problems |
85.7% |
42/49 |
| Anxiety |
44.9% |
22/49 |
| Abnormal social behavior |
42.9% |
21/49 |
| Attention deficit hyperactivity disorder |
36.7% |
18/49 |
| Autistic behavior |
26.5% |
13/49 |
| Aggressive behavior |
18.4% |
9/49 |
| Hyperacusis |
12.2% |
6/49 |
| Short attention span |
12.2% |
6/49 |
| Developmental regression |
6.1% |
3/49 |
| Abnormal fear/anxiety-related behavior |
2.0% |
1/49 |
| Absent speech |
2.0% |
1/49 |
| Hyperactivity |
2.0% |
1/49 |
| Impaired pain sensation |
2.0% |
1/49 |
| Mood changes |
2.0% |
1/49 |
| Oppositional defiant disorder |
2.0% |
1/49 |
| Pain insensitivity |
2.0% |
1/49 |
| Self-biting |
2.0% |
1/49 |
| Sleep disturbance |
2.0% |
1/49 |
| Brain abnormality |
41.2% |
7/17 |
| Ventriculomegaly |
17.6% |
3/17 |
| Delayed CNS myelination |
11.8% |
2/17 |
| Abnormality of the cerebral vasculature |
5.9% |
1/17 |
| Abnormality of the periventricular white matter |
5.9% |
1/17 |
| Cerebral cortical atrophy |
5.9% |
1/17 |
| Cerebellar atrophy |
5.9% |
1/17 |
| EEG abnormality |
5.9% |
1/17 |
| Extra-axial cerebrospinal fluid accumulation |
5.9% |
1/17 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
18.0% |
9/50 |
| Low-set, posteriorly rotated ears |
14.0% |
7/50 |
| Abnormality of the pinna |
2.0% |
1/50 |
| Low-set ears |
2.0% |
1/50 |
| Posteriorly rotated ears |
2.0% |
1/50 |
| Prominent ear helix |
2.0% |
1/50 |
| Abnormality of the eye |
25.0% |
13/52 |
| Epicanthus |
3.8% |
2/52 |
| Highly arched eyebrow |
3.8% |
2/52 |
| Long eyelashes |
3.8% |
2/52 |
| Strabismus |
3.8% |
2/52 |
| Upslanted palpebral fissure |
3.8% |
2/52 |
| Bilateral microphthalmos |
1.9% |
1/52 |
| Deeply set eye |
1.9% |
1/52 |
| Hypertelorism |
1.9% |
1/52 |
| Long palpebral fissure |
1.9% |
1/52 |
| Low hanging columella |
1.9% |
1/52 |
| Prominent eyelashes |
1.9% |
1/52 |
| Sparse lateral eyebrow |
1.9% |
1/52 |
| Sparse eyebrow |
1.9% |
1/52 |
| Abnormality of the nose |
19.2% |
10/52 |
| Anteverted nares |
11.5% |
6/52 |
| Short columella |
3.8% |
2/52 |
| Depressed nasal tip |
1.9% |
1/52 |
| Flat nasal alae |
1.9% |
1/52 |
| Short nose |
1.9% |
1/52 |
| Wide nose |
1.9% |
1/52 |
| Abnormality of the mouth |
100.0% |
53/53 |
| Thin upper lip vermilion |
83.0% |
44/53 |
| Wide mouth |
79.2% |
42/53 |
| Downturned corners of mouth |
49.1% |
26/53 |
| High, narrow palate |
3.8% |
2/53 |
| Thin vermilion border |
3.8% |
2/53 |
| Abnormality of mouth size |
1.9% |
1/53 |
| Broad philtrum |
1.9% |
1/53 |
| Delayed eruption of teeth |
1.9% |
1/53 |
| High palate |
1.9% |
1/53 |
| Incisor macrodontia |
1.9% |
1/53 |
| Short philtrum |
1.9% |
1/53 |
| Short lingual frenulum |
1.9% |
1/53 |
| Thick vermilion border |
1.9% |
1/53 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
1.8% |
1/55 |
| Hypermetropia |
1.8% |
1/55 |
| Abnormal vision |
60.0% |
27/45 |
| Strabismus |
31.1% |
14/45 |
| Hypermetropia |
28.9% |
13/45 |
| Astigmatism |
15.6% |
7/45 |
| Myopia |
15.6% |
7/45 |
| Amblyopia |
6.7% |
3/45 |
| Nystagmus |
6.7% |
3/45 |
| Esotropia |
4.4% |
2/45 |
| Abnormality of vision |
2.2% |
1/45 |
| Cortical visual impairment |
2.2% |
1/45 |
| Iridocyclitis |
2.2% |
1/45 |
| Retinal detachment |
2.2% |
1/45 |
| Unilateral strabismus |
2.2% |
1/45 |
| Heart |
|
|
| Abnormality of the heart |
7.5% |
4/53 |
| Bicuspid aortic valve |
1.9% |
1/53 |
| Hypertrophic cardiomyopathy |
1.9% |
1/53 |
| Patent ductus arteriosus |
1.9% |
1/53 |
| Pericardial effusion |
1.9% |
1/53 |
| Ventricular septal defect |
1.9% |
1/53 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
88.2% |
45/51 |
| Constipation |
62.7% |
32/51 |
| Vomiting |
58.8% |
30/51 |
| Gastroesophageal reflux |
37.3% |
19/51 |
| Feeding difficulties |
11.8% |
6/51 |
| Feeding difficulties in infancy |
7.8% |
4/51 |
| Anal fissure |
2.0% |
1/51 |
| Bowel incontinence |
2.0% |
1/51 |
| Poor suck |
2.0% |
1/51 |
| Volvulus |
2.0% |
1/51 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
26.1% |
12/46 |
| Cryptorchidism |
15.2% |
7/46 |
| Bilateral cryptorchidism |
2.2% |
1/46 |
| Hypoplastic male external genitalia |
2.2% |
1/46 |
| Hypospadias |
2.2% |
1/46 |
| Pyloric stenosis |
2.2% |
1/46 |
| Retractile testis |
2.2% |
1/46 |
| Urinary incontinence |
2.2% |
1/46 |
| Skeleton |
|
|
| Skeletal abnormalities |
70.6% |
36/51 |
| Small hand |
62.7% |
32/51 |
| Short foot |
56.9% |
29/51 |
| Hyperlordosis |
13.7% |
7/51 |
| Brachydactyly syndrome |
5.9% |
3/51 |
| Broad hallux |
5.9% |
3/51 |
| Broad thumb |
3.9% |
2/51 |
| Broad finger |
3.9% |
2/51 |
| Delayed skeletal maturation |
3.9% |
2/51 |
| Abnormality of the thumb |
2.0% |
1/51 |
| Abnormality of the mandible |
2.0% |
1/51 |
| Abnormality of the patella |
2.0% |
1/51 |
| Abnormality of the distal phalanges of the toes |
2.0% |
1/51 |
| Absent middle phalanx of 5th finger |
2.0% |
1/51 |
| Brachycephaly |
2.0% |
1/51 |
| Broad toe |
2.0% |
1/51 |
| Complete duplication of the distal phalanx of the 5th finger |
2.0% |
1/51 |
| Congenital pseudoarthrosis of the clavicle |
2.0% |
1/51 |
| Delayed ossification of carpal bones |
2.0% |
1/51 |
| Enlarged epiphysis of the distal phalanx of the thumb |
2.0% |
1/51 |
| Exostoses |
2.0% |
1/51 |
| Finger clinodactyly |
2.0% |
1/51 |
| Hallux varus |
2.0% |
1/51 |
| Hyperextensible thumb |
2.0% |
1/51 |
| Hyperextensibility of the finger joints |
2.0% |
1/51 |
| Parietal foramina |
2.0% |
1/51 |
| Partial duplication of the distal phalanx of the hallux |
2.0% |
1/51 |
| Plagiocephaly |
2.0% |
1/51 |
| Prominent metopic ridge |
2.0% |
1/51 |
| Short finger |
2.0% |
1/51 |
| Short neck |
2.0% |
1/51 |
| Short thumb |
2.0% |
1/51 |
| Short distal phalanx of the thumb |
2.0% |
1/51 |
| Short 1st metacarpal |
2.0% |
1/51 |
| Tapered finger |
2.0% |
1/51 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
49.0% |
25/51 |
| Small nail |
31.4% |
16/51 |
| Hypoplastic toenails |
9.8% |
5/51 |
| Abnormality of the toenails |
2.0% |
1/51 |
| Acne |
2.0% |
1/51 |
| Bilateral single transverse palmar creases |
2.0% |
1/51 |
| Dystrophic toenail |
2.0% |
1/51 |
| Hyperhidrosis |
2.0% |
1/51 |
| Hypoplastic fifth toenail |
2.0% |
1/51 |
| Hypoplastic fingernail |
2.0% |
1/51 |
| Numerous nevi |
2.0% |
1/51 |
| Subungual hyperkeratosis |
2.0% |
1/51 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
10.6% |
5/47 |
| Growth hormone deficiency |
10.6% |
5/47 |
| Abnormality of the metabolic system |
3.7% |
2/54 |
| Temperature instability |
3.7% |
2/54 |
| Recurrent hypoglycemia |
1.9% |
1/54 |
| Abnormality of the immune system |
62.2% |
28/45 |
| Recurrent infections |
33.3% |
15/45 |
| Recurrent otitis media |
33.3% |
15/45 |
| Episodic fever |
17.8% |
8/45 |
| Allergy |
2.2% |
1/45 |
| Aspiration pneumonia |
2.2% |
1/45 |
| Bronchiolitis |
2.2% |
1/45 |
| Pneumonia |
2.2% |
1/45 |
| Recurrent urinary tract infections |
2.2% |
1/45 |
| Recurrent candida infections |
2.2% |
1/45 |
| Recurrent Staphylococcus aureus infections |
2.2% |
1/45 |