| Gender |
|
|
| Male |
65.6% |
40/61 |
| Female |
34.4% |
21/61 |
| General |
|
|
| Birth Length abnormalities |
6.4% |
3/47 |
| < P3 : Birth length less than 3rd percentile |
6.4% |
3/47 |
| Birth Weight abnormalities |
11.5% |
7/61 |
| < P3 : Small for gestational age |
9.8% |
6/61 |
| > P98 : Large for gestational age |
1.6% |
1/61 |
| Birth Head circumference abnormalities |
0% |
0/48 |
| Current Height abnormalities |
50.8% |
31/61 |
| < P3 : Short stature |
50.8% |
31/61 |
| Current Weight abnormalities |
26.2% |
16/61 |
| > P98 : Increased body weight |
6.6% |
4/61 |
| < P3 : Decreased body weight |
19.7% |
12/61 |
| Current Head circumference abnormalities |
24.6% |
15/61 |
| < P3 : Microcephaly |
19.7% |
12/61 |
| > P98 : Macrocephaly |
4.9% |
3/61 |
| Neurology |
|
|
| Neurological abnormalities |
87.7% |
50/57 |
| Muscular hypotonia |
43.9% |
25/57 |
| Sleep disturbance |
24.6% |
14/57 |
| Abnormality of pain sensation |
21.1% |
12/57 |
| Generalized hypotonia |
21.1% |
12/57 |
| Hyperacusis |
21.1% |
12/57 |
| Global developmental delay |
15.8% |
9/57 |
| Impaired pain sensation |
10.5% |
6/57 |
| Tremor |
10.5% |
6/57 |
| Broad-based gait |
8.8% |
5/57 |
| Seizures |
5.3% |
3/57 |
| Febrile seizures |
3.5% |
2/57 |
| Neonatal hypotonia |
3.5% |
2/57 |
| Pain insensitivity |
3.5% |
2/57 |
| Absence seizures |
1.8% |
1/57 |
| Dyscalculia |
1.8% |
1/57 |
| Dyslexia |
1.8% |
1/57 |
| Exaggerated startle response |
1.8% |
1/57 |
| Inappropriate behavior |
1.8% |
1/57 |
| Migraine |
1.8% |
1/57 |
| Moderate global developmental delay |
1.8% |
1/57 |
| Poor speech |
1.8% |
1/57 |
| Specific learning disability |
1.8% |
1/57 |
| Speech articulation difficulties |
1.8% |
1/57 |
| Speech apraxia |
1.8% |
1/57 |
| Behavioral problems |
85.2% |
46/54 |
| Abnormal social behavior |
42.6% |
23/54 |
| Anxiety |
40.7% |
22/54 |
| Attention deficit hyperactivity disorder |
33.3% |
18/54 |
| Autistic behavior |
24.1% |
13/54 |
| Aggressive behavior |
16.7% |
9/54 |
| Short attention span |
13.0% |
7/54 |
| Hyperacusis |
11.1% |
6/54 |
| Developmental regression |
5.6% |
3/54 |
| Inappropriate sexual behavior |
3.7% |
2/54 |
| Stereotypic behavior |
3.7% |
2/54 |
| Abnormal fear/anxiety-related behavior |
1.9% |
1/54 |
| Absent speech |
1.9% |
1/54 |
| Autism |
1.9% |
1/54 |
| Hyperactivity |
1.9% |
1/54 |
| Impaired pain sensation |
1.9% |
1/54 |
| Impulsivity |
1.9% |
1/54 |
| Mild global developmental delay |
1.9% |
1/54 |
| Mood changes |
1.9% |
1/54 |
| Oppositional defiant disorder |
1.9% |
1/54 |
| Pain insensitivity |
1.9% |
1/54 |
| Self-biting |
1.9% |
1/54 |
| Sleep disturbance |
1.9% |
1/54 |
| Brain abnormality |
36.4% |
8/22 |
| Ventriculomegaly |
13.6% |
3/22 |
| Delayed CNS myelination |
9.1% |
2/22 |
| Abnormality of the periventricular white matter |
4.5% |
1/22 |
| Abnormality of the cerebral vasculature |
4.5% |
1/22 |
| Cerebral hemorrhage |
4.5% |
1/22 |
| Cerebral cortical atrophy |
4.5% |
1/22 |
| Cerebellar atrophy |
4.5% |
1/22 |
| EEG abnormality |
4.5% |
1/22 |
| Extra-axial cerebrospinal fluid accumulation |
4.5% |
1/22 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
23.2% |
13/56 |
| Low-set, posteriorly rotated ears |
19.6% |
11/56 |
| Abnormality of the pinna |
1.8% |
1/56 |
| Low-set ears |
1.8% |
1/56 |
| Posteriorly rotated ears |
1.8% |
1/56 |
| Prominent ear helix |
1.8% |
1/56 |
| Abnormality of the eye |
29.3% |
17/58 |
| Epicanthus |
6.9% |
4/58 |
| Strabismus |
6.9% |
4/58 |
| Highly arched eyebrow |
3.4% |
2/58 |
| Hypotelorism |
3.4% |
2/58 |
| Long eyelashes |
3.4% |
2/58 |
| Upslanted palpebral fissure |
3.4% |
2/58 |
| Bilateral microphthalmos |
1.7% |
1/58 |
| Deeply set eye |
1.7% |
1/58 |
| Esotropia |
1.7% |
1/58 |
| Hypertelorism |
1.7% |
1/58 |
| Long palpebral fissure |
1.7% |
1/58 |
| Low hanging columella |
1.7% |
1/58 |
| Prominent eyelashes |
1.7% |
1/58 |
| Sparse eyebrow |
1.7% |
1/58 |
| Sparse lateral eyebrow |
1.7% |
1/58 |
| Abnormality of the nose |
21.1% |
12/57 |
| Anteverted nares |
10.5% |
6/57 |
| Bulbous nose |
3.5% |
2/57 |
| Narrow naris |
3.5% |
2/57 |
| Short columella |
3.5% |
2/57 |
| Depressed nasal tip |
1.8% |
1/57 |
| Flat nasal alae |
1.8% |
1/57 |
| Short nose |
1.8% |
1/57 |
| Wide nose |
1.8% |
1/57 |
| Abnormality of the mouth |
98.3% |
57/58 |
| Thin upper lip vermilion |
81.0% |
47/58 |
| Wide mouth |
75.9% |
44/58 |
| Downturned corners of mouth |
44.8% |
26/58 |
| Abnormality of mouth size |
5.2% |
3/58 |
| High, narrow palate |
3.4% |
2/58 |
| Smooth philtrum |
3.4% |
2/58 |
| Thick lower lip vermilion |
3.4% |
2/58 |
| Thin vermilion border |
3.4% |
2/58 |
| Broad philtrum |
1.7% |
1/58 |
| Delayed eruption of teeth |
1.7% |
1/58 |
| High palate |
1.7% |
1/58 |
| Incisor macrodontia |
1.7% |
1/58 |
| Short philtrum |
1.7% |
1/58 |
| Short lingual frenulum |
1.7% |
1/58 |
| Thick vermilion border |
1.7% |
1/58 |
| Unilateral cleft palate |
1.7% |
1/58 |
| Unilateral cleft lip |
1.7% |
1/58 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
1.7% |
1/60 |
| Hypermetropia |
1.7% |
1/60 |
| Abnormal vision |
56.9% |
29/51 |
| Strabismus |
27.5% |
14/51 |
| Hypermetropia |
25.5% |
13/51 |
| Astigmatism |
15.7% |
8/51 |
| Myopia |
15.7% |
8/51 |
| Amblyopia |
7.8% |
4/51 |
| Nystagmus |
5.9% |
3/51 |
| Esotropia |
3.9% |
2/51 |
| Abnormality of vision |
2.0% |
1/51 |
| Cortical visual impairment |
2.0% |
1/51 |
| Iridocyclitis |
2.0% |
1/51 |
| Retinal detachment |
2.0% |
1/51 |
| Unilateral strabismus |
2.0% |
1/51 |
| Heart |
|
|
| Abnormality of the heart |
8.6% |
5/58 |
| Patent ductus arteriosus |
3.4% |
2/58 |
| Ventricular septal defect |
3.4% |
2/58 |
| Atria septal defect |
1.7% |
1/58 |
| Bicuspid aortic valve |
1.7% |
1/58 |
| Hypertrophic cardiomyopathy |
1.7% |
1/58 |
| Pericardial effusion |
1.7% |
1/58 |
| Pulmonary |
|
|
| Abnormality of the lungs |
6.8% |
3/44 |
| Apnea |
2.3% |
1/44 |
| Breathing dysregulation |
2.3% |
1/44 |
| Bronchitis |
2.3% |
1/44 |
| Recurrent respiratory infections |
2.3% |
1/44 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
87.7% |
50/57 |
| Constipation |
63.2% |
36/57 |
| Vomiting |
52.6% |
30/57 |
| Gastroesophageal reflux |
36.8% |
21/57 |
| Feeding difficulties |
12.3% |
7/57 |
| Feeding difficulties in infancy |
10.5% |
6/57 |
| Intermittent diarrhea |
3.5% |
2/57 |
| Anal fissure |
1.8% |
1/57 |
| Bowel incontinence |
1.8% |
1/57 |
| Episodic vomiting |
1.8% |
1/57 |
| Hepatomegaly |
1.8% |
1/57 |
| Poor suck |
1.8% |
1/57 |
| Volvulus |
1.8% |
1/57 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
25.5% |
13/51 |
| Cryptorchidism |
13.7% |
7/51 |
| Bilateral cryptorchidism |
2.0% |
1/51 |
| Hypoplastic male external genitalia |
2.0% |
1/51 |
| Hypospadias |
2.0% |
1/51 |
| Micropenis |
2.0% |
1/51 |
| Pyloric stenosis |
2.0% |
1/51 |
| Retractile testis |
2.0% |
1/51 |
| Urinary incontinence |
2.0% |
1/51 |
| Skeleton |
|
|
| Skeletal abnormalities |
71.9% |
41/57 |
| Small hand |
59.6% |
34/57 |
| Short foot |
57.9% |
33/57 |
| Hyperlordosis |
14.0% |
8/57 |
| Brachydactyly syndrome |
10.5% |
6/57 |
| Abnormality of skeletal maturation |
5.3% |
3/57 |
| Broad hallux |
5.3% |
3/57 |
| Finger clinodactyly |
5.3% |
3/57 |
| Broad thumb |
3.5% |
2/57 |
| Broad finger |
3.5% |
2/57 |
| Delayed skeletal maturation |
3.5% |
2/57 |
| Lumbar hyperlordosis |
3.5% |
2/57 |
| Abnormality of the mandible |
1.8% |
1/57 |
| Abnormality of the thumb |
1.8% |
1/57 |
| Abnormality of the distal phalanges of the toes |
1.8% |
1/57 |
| Abnormality of the patella |
1.8% |
1/57 |
| Absent middle phalanx of 5th finger |
1.8% |
1/57 |
| Brachycephaly |
1.8% |
1/57 |
| Broad toe |
1.8% |
1/57 |
| Complete duplication of the distal phalanx of the 5th finger |
1.8% |
1/57 |
| Congenital pseudoarthrosis of the clavicle |
1.8% |
1/57 |
| Delayed ossification of carpal bones |
1.8% |
1/57 |
| Enlarged epiphysis of the distal phalanx of the thumb |
1.8% |
1/57 |
| Exostoses |
1.8% |
1/57 |
| Hallux varus |
1.8% |
1/57 |
| Hyperextensible thumb |
1.8% |
1/57 |
| Hyperextensibility of the finger joints |
1.8% |
1/57 |
| Parietal foramina |
1.8% |
1/57 |
| Partial duplication of the distal phalanx of the hallux |
1.8% |
1/57 |
| Plagiocephaly |
1.8% |
1/57 |
| Prominent metopic ridge |
1.8% |
1/57 |
| Short thumb |
1.8% |
1/57 |
| Short 1st metacarpal |
1.8% |
1/57 |
| Short neck |
1.8% |
1/57 |
| Short finger |
1.8% |
1/57 |
| Short distal phalanx of the thumb |
1.8% |
1/57 |
| Tapered finger |
1.8% |
1/57 |
| 3-4 finger syndactyly |
1.8% |
1/57 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
49.1% |
28/57 |
| Small nail |
28.1% |
16/57 |
| Hypoplastic toenails |
8.8% |
5/57 |
| Nail dysplasia |
3.5% |
2/57 |
| Abnormality of the toenails |
1.8% |
1/57 |
| Acne |
1.8% |
1/57 |
| Bilateral single transverse palmar creases |
1.8% |
1/57 |
| Dystrophic toenail |
1.8% |
1/57 |
| Hyperhidrosis |
1.8% |
1/57 |
| Hypoplastic fingernail |
1.8% |
1/57 |
| Hypoplastic fifth toenail |
1.8% |
1/57 |
| Numerous nevi |
1.8% |
1/57 |
| Single transverse palmar crease |
1.8% |
1/57 |
| Subungual hyperkeratosis |
1.8% |
1/57 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
9.6% |
5/52 |
| Growth hormone deficiency |
9.6% |
5/52 |
| Abnormality of the metabolic system |
3.4% |
2/59 |
| Temperature instability |
3.4% |
2/59 |
| Recurrent hypoglycemia |
1.7% |
1/59 |
| Abnormality of the immune system |
56.0% |
28/50 |
| Recurrent infections |
30.0% |
15/50 |
| Recurrent otitis media |
30.0% |
15/50 |
| Episodic fever |
16.0% |
8/50 |
| Allergy |
2.0% |
1/50 |
| Aspiration pneumonia |
2.0% |
1/50 |
| Bronchiolitis |
2.0% |
1/50 |
| Pneumonia |
2.0% |
1/50 |
| Recurrent urinary tract infections |
2.0% |
1/50 |
| Recurrent candida infections |
2.0% |
1/50 |
| Recurrent Staphylococcus aureus infections |
2.0% |
1/50 |