Gender |
|
|
Male |
54.9% |
45/82 |
Female |
45.1% |
37/82 |
Indifferent |
0% |
0/82 |
Unknown |
0% |
0/82 |
General |
|
|
Birth Length abnormalities |
3.7% |
3/81 |
< P3 : Birth length less than 3rd percentile |
3.7% |
3/81 |
Birth Weight abnormalities |
12.3% |
10/81 |
> P98 : Large for gestational age |
3.7% |
3/81 |
< P3 : Small for gestational age |
8.6% |
7/81 |
Birth Head circumference abnormalities |
4.9% |
4/81 |
< P3 : Congenital microcephaly |
3.7% |
3/81 |
> P98 : Macrocephaly at birth |
1.2% |
1/81 |
Current Height abnormalities |
25.0% |
20/80 |
< P3 : Short stature |
23.8% |
19/80 |
> P98 : Tall stature |
1.3% |
1/80 |
Current Weight abnormalities |
15.0% |
12/80 |
> P98 : Increased body weight |
8.8% |
7/80 |
< P3 : Decreased body weight |
6.3% |
5/80 |
Current Head circumference abnormalities |
13.9% |
11/79 |
< P3 : Microcephaly |
13.9% |
11/79 |
Neurology |
|
|
Neurological abnormalities |
88.9% |
64/72 |
Generalized hypotonia |
65.3% |
47/72 |
Pain insensitivity |
18.1% |
13/72 |
Seizures |
13.9% |
10/72 |
Nystagmus |
6.9% |
5/72 |
Muscular hypotonia |
4.2% |
3/72 |
EEG with focal epileptiform discharges |
2.8% |
2/72 |
Spasticity |
2.8% |
2/72 |
Abnormality of the extraocular muscles |
1.4% |
1/72 |
Abnormality of the optic nerve |
1.4% |
1/72 |
Central hypotonia |
1.4% |
1/72 |
Delayed speech and language development |
1.4% |
1/72 |
Drooling |
1.4% |
1/72 |
EEG abnormality |
1.4% |
1/72 |
EEG with burst suppression |
1.4% |
1/72 |
Facial palsy |
1.4% |
1/72 |
Generalized seizures |
1.4% |
1/72 |
Global developmental delay |
1.4% |
1/72 |
Hypertonia |
1.4% |
1/72 |
Lower limb hypertonia |
1.4% |
1/72 |
Multifocal epileptiform discharges |
1.4% |
1/72 |
Paroxysmal bursts of laughter |
1.4% |
1/72 |
Poor eye contact |
1.4% |
1/72 |
Stereotypical hand wringing |
1.4% |
1/72 |
Stereotypic behavior |
1.4% |
1/72 |
Upbeat nystagmus |
1.4% |
1/72 |
Vertical nystagmus |
1.4% |
1/72 |
Behavioral problems |
90.0% |
63/70 |
Autism |
60.0% |
42/70 |
Attention deficit hyperactivity disorder |
17.1% |
12/70 |
Aggressive behavior |
11.4% |
8/70 |
Recurrent hand flapping |
10.0% |
7/70 |
Abnormal emotion/affect behavior |
8.6% |
6/70 |
Anxiety |
8.6% |
6/70 |
Autistic behavior |
8.6% |
6/70 |
Obsessive-compulsive behavior |
8.6% |
6/70 |
Short attention span |
7.1% |
5/70 |
Stereotypical body rocking |
7.1% |
5/70 |
Stereotypic behavior |
5.7% |
4/70 |
Hyperactivity |
4.3% |
3/70 |
Self-injurious behavior |
4.3% |
3/70 |
Stereotypical hand wringing |
4.3% |
3/70 |
Mood changes |
2.9% |
2/70 |
Obsessive-compulsive trait |
2.9% |
2/70 |
Self-mutilation |
2.9% |
2/70 |
Abnormal aggressive, impulsive or violent behavior |
1.4% |
1/70 |
Abnormal social behavior |
1.4% |
1/70 |
Apraxia |
1.4% |
1/70 |
Behavioral abnormality |
1.4% |
1/70 |
Depression |
1.4% |
1/70 |
Echolalia |
1.4% |
1/70 |
Hair-pulling |
1.4% |
1/70 |
Impaired ability to form peer relationships |
1.4% |
1/70 |
Impaired social interactions |
1.4% |
1/70 |
Inflexible adherence to routines or rituals |
1.4% |
1/70 |
Low frustration tolerance |
1.4% |
1/70 |
Mood swings |
1.4% |
1/70 |
Pain insensitivity |
1.4% |
1/70 |
Poor eye contact |
1.4% |
1/70 |
Sleep disturbance |
1.4% |
1/70 |
Violent behavior |
1.4% |
1/70 |
Brain abnormality |
58.1% |
36/62 |
Abnormality of the cerebral ventricles |
12.9% |
8/62 |
Hypoplasia of the corpus callosum |
9.7% |
6/62 |
Cerebral atrophy |
8.1% |
5/62 |
Dilation of lateral ventricles |
8.1% |
5/62 |
Abnormality of the periventricular white matter |
4.8% |
3/62 |
Cortical dysplasia |
4.8% |
3/62 |
Delayed myelination |
4.8% |
3/62 |
Abnormality of the cerebral white matter |
3.2% |
2/62 |
Abnormality of the cerebral cortex |
3.2% |
2/62 |
Abnormality of the corpus callosum |
3.2% |
2/62 |
Choroid plexus cyst |
3.2% |
2/62 |
Cortical gyral simplification |
3.2% |
2/62 |
Dilated third ventricle |
3.2% |
2/62 |
Enlarged cisterna magna |
3.2% |
2/62 |
Focal white matter lesions |
3.2% |
2/62 |
Abnormality of the spinal cord |
1.6% |
1/62 |
Abnormality of lateral ventricle |
1.6% |
1/62 |
Aplasia/Hypoplasia of the optic nerve |
1.6% |
1/62 |
Aplasia/Hypoplasia of the cerebral white matter |
1.6% |
1/62 |
Arachnoid cyst |
1.6% |
1/62 |
Autism |
1.6% |
1/62 |
Brain atrophy |
1.6% |
1/62 |
Cerebral ischemia |
1.6% |
1/62 |
Cerebral hypoplasia |
1.6% |
1/62 |
Encephalopathy |
1.6% |
1/62 |
Hydrocephalus |
1.6% |
1/62 |
Hypoplasia of the frontal lobes |
1.6% |
1/62 |
Hypoplasia of olfactory tract |
1.6% |
1/62 |
Limbic malformations |
1.6% |
1/62 |
Multifocal cerebral white matter abnormalities |
1.6% |
1/62 |
Periventricular leukomalacia |
1.6% |
1/62 |
Pineal cyst |
1.6% |
1/62 |
Punctate periventricular T2 hyperintense foci |
1.6% |
1/62 |
Small pituitary gland |
1.6% |
1/62 |
Subdural hemorrhage |
1.6% |
1/62 |
Ventriculomegaly |
1.6% |
1/62 |
Widened subarachnoid space |
1.6% |
1/62 |
Facial abnormalities |
|
|
Abnormality of the ear |
52.9% |
36/68 |
External ear malformation |
16.2% |
11/68 |
Low-set ears |
11.8% |
8/68 |
Small earlobe |
8.8% |
6/68 |
Uplifted earlobe |
5.9% |
4/68 |
Abnormality of the outer ear |
4.4% |
3/68 |
Overfolding of the superior helices |
2.9% |
2/68 |
Overfolded helix |
2.9% |
2/68 |
Posteriorly rotated ears |
2.9% |
2/68 |
Thickened helices |
2.9% |
2/68 |
Abnormality of earlobe |
1.5% |
1/68 |
Auricular tag |
1.5% |
1/68 |
Lop ear |
1.5% |
1/68 |
Low-set, posteriorly rotated ears |
1.5% |
1/68 |
Microtia |
1.5% |
1/68 |
Narrow internal auditory canal |
1.5% |
1/68 |
Preauricular pit |
1.5% |
1/68 |
Squared superior portion of helix |
1.5% |
1/68 |
Abnormality of the eye |
85.9% |
61/71 |
Downslanted palpebral fissures |
25.4% |
18/71 |
Hypertelorism |
23.9% |
17/71 |
Strabismus |
19.7% |
14/71 |
Eversion of lateral third of lower eyelids |
14.1% |
10/71 |
Thick eyebrow |
12.7% |
9/71 |
Ptosis |
11.3% |
8/71 |
Short palpebral fissure |
11.3% |
8/71 |
Upslanted palpebral fissure |
7.0% |
5/71 |
Bilateral ptosis |
5.6% |
4/71 |
Prominent eyelashes |
5.6% |
4/71 |
Small palpebral fissure |
5.6% |
4/71 |
Abnormality of the periorbital region |
4.2% |
3/71 |
Lacrimal duct stenosis |
2.8% |
2/71 |
Medial flaring of the eyebrow |
2.8% |
2/71 |
Sparse eyebrow |
2.8% |
2/71 |
Abnormality of the eyelid |
1.4% |
1/71 |
Abnormality of the lacrimal duct |
1.4% |
1/71 |
Astigmatism |
1.4% |
1/71 |
Blepharophimosis |
1.4% |
1/71 |
Coloboma |
1.4% |
1/71 |
Ectropion of lower eyelids |
1.4% |
1/71 |
Epicanthus |
1.4% |
1/71 |
High-grade hypermetropia |
1.4% |
1/71 |
Hypotelorism |
1.4% |
1/71 |
Iris coloboma |
1.4% |
1/71 |
Long eyelashes |
1.4% |
1/71 |
Long palpebral fissure |
1.4% |
1/71 |
Telecanthus |
1.4% |
1/71 |
Abnormality of the nose |
86.3% |
63/73 |
Wide nasal bridge |
45.2% |
33/73 |
Short nose |
39.7% |
29/73 |
Anteverted nares |
28.8% |
21/73 |
Broad nasal tip |
17.8% |
13/73 |
Wide nasal base |
16.4% |
12/73 |
Depressed nasal bridge |
9.6% |
7/73 |
Abnormality of the nasal bridge |
8.2% |
6/73 |
Abnormality of the nasal tip |
6.8% |
5/73 |
Narrow nasal bridge |
5.5% |
4/73 |
Thick nasal alae |
5.5% |
4/73 |
Anteverted ears |
1.4% |
1/73 |
Choanal atresia |
1.4% |
1/73 |
Long philtrum |
1.4% |
1/73 |
Low hanging columella |
1.4% |
1/73 |
Narrow nasal tip |
1.4% |
1/73 |
Smooth philtrum |
1.4% |
1/73 |
Underdeveloped nasal alae |
1.4% |
1/73 |
Abnormality of the mouth |
87.1% |
61/70 |
Thin upper lip vermilion |
52.9% |
37/70 |
Long philtrum |
31.4% |
22/70 |
Thick lower lip vermilion |
25.7% |
18/70 |
Widely spaced teeth |
21.4% |
15/70 |
Everted lower lip vermilion |
11.4% |
8/70 |
Abnormality of upper lip vermillion |
10.0% |
7/70 |
Broad philtrum |
10.0% |
7/70 |
Wide mouth |
8.6% |
6/70 |
Abnormality of mouth size |
7.1% |
5/70 |
Abnormality of lower lip |
7.1% |
5/70 |
Short philtrum |
5.7% |
4/70 |
Abnormality of dental enamel |
4.3% |
3/70 |
Deep philtrum |
2.9% |
2/70 |
High palate |
2.9% |
2/70 |
Narrow palate |
2.9% |
2/70 |
Abnormality of the philtrum |
1.4% |
1/70 |
Asymmetric crying face |
1.4% |
1/70 |
Carious teeth |
1.4% |
1/70 |
Cleft palate |
1.4% |
1/70 |
Dental malocclusion |
1.4% |
1/70 |
Downturned corners of mouth |
1.4% |
1/70 |
Mandibular prognathia |
1.4% |
1/70 |
Narrow mouth |
1.4% |
1/70 |
Thick upper lip vermilion |
1.4% |
1/70 |
Thin lower lip vermilion |
1.4% |
1/70 |
Widely spaced primary teeth |
1.4% |
1/70 |
Yellow-brown discoloration of the teeth |
1.4% |
1/70 |
Visual and hearing impairments |
|
|
Abnormal hearing |
13.6% |
9/66 |
Hearing impairment |
6.1% |
4/66 |
Bilateral sensorineural hearing impairment |
1.5% |
1/66 |
Chronic otitis media |
1.5% |
1/66 |
Congenital sensorineural hearing impairment |
1.5% |
1/66 |
Recurrent infections of the middle ear |
1.5% |
1/66 |
Sensorineural hearing impairment |
1.5% |
1/66 |
Abnormal vision |
69.6% |
48/69 |
Hypermetropia |
34.8% |
24/69 |
Strabismus |
24.6% |
17/69 |
Cortical visual impairment |
11.6% |
8/69 |
Congenital visual impairment |
8.7% |
6/69 |
Astigmatism |
7.2% |
5/69 |
Esotropia |
4.3% |
3/69 |
Myopia |
4.3% |
3/69 |
Ptosis |
4.3% |
3/69 |
Hypertelorism |
2.9% |
2/69 |
Optic nerve coloboma |
2.9% |
2/69 |
Amblyopia |
1.4% |
1/69 |
Anisometropia |
1.4% |
1/69 |
Cataract |
1.4% |
1/69 |
Congenital cataract |
1.4% |
1/69 |
Exotropia |
1.4% |
1/69 |
High-grade hypermetropia |
1.4% |
1/69 |
Hyperopic astigmatism |
1.4% |
1/69 |
Iris coloboma |
1.4% |
1/69 |
Nystagmus |
1.4% |
1/69 |
Retinal detachment |
1.4% |
1/69 |
Severe Myopia |
1.4% |
1/69 |
Heart |
|
|
Abnormality of the heart |
39.4% |
28/71 |
Atria septal defect |
9.9% |
7/71 |
Patent ductus arteriosus |
7.0% |
5/71 |
Patent foramen ovale |
5.6% |
4/71 |
Abnormality of the atrial septum |
4.2% |
3/71 |
Mitral valve prolapse |
4.2% |
3/71 |
Ventricular septal defect |
4.2% |
3/71 |
Abnormality of the aortic valve |
1.4% |
1/71 |
Abnormality of the pulmonary valve |
1.4% |
1/71 |
Abnormality of the ventricular septum |
1.4% |
1/71 |
Abnormality of the aorta |
1.4% |
1/71 |
Atrial septal aneurysm |
1.4% |
1/71 |
Ductus arteriosus aneurysm |
1.4% |
1/71 |
Dysplastic aortic valve |
1.4% |
1/71 |
Mitral regurgitation |
1.4% |
1/71 |
Noncompaction cardiomyopathy |
1.4% |
1/71 |
Primum atrial septal defect |
1.4% |
1/71 |
Right aortic arch |
1.4% |
1/71 |
Tapered finger |
1.4% |
1/71 |
Tetralogy of Fallot |
1.4% |
1/71 |
Tricuspid regurgitation |
1.4% |
1/71 |
Vascular ring |
1.4% |
1/71 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
77.8% |
56/72 |
Gastroesophageal reflux |
45.8% |
33/72 |
Constipation |
43.1% |
31/72 |
Feeding difficulties |
37.5% |
27/72 |
Vomiting |
20.8% |
15/72 |
Obesity |
15.3% |
11/72 |
Dysphagia |
8.3% |
6/72 |
Gastrostomy tube feeding in infancy |
6.9% |
5/72 |
Aspiration |
5.6% |
4/72 |
Feeding difficulties in infancy |
4.2% |
3/72 |
Polyphagia |
4.2% |
3/72 |
Poor suck |
4.2% |
3/72 |
Anal atresia |
2.8% |
2/72 |
Diarrhea |
2.8% |
2/72 |
Oral-pharyngeal dysphagia |
2.8% |
2/72 |
Abnormality of the tongue muscle |
1.4% |
1/72 |
Chronic constipation |
1.4% |
1/72 |
Encopresis |
1.4% |
1/72 |
Inguinal hernia |
1.4% |
1/72 |
Intermittent diarrhea |
1.4% |
1/72 |
Intestinal malrotation |
1.4% |
1/72 |
Lactose intolerance |
1.4% |
1/72 |
Oral motor hypotonia |
1.4% |
1/72 |
Slow progression |
1.4% |
1/72 |
Umbilical hernia |
1.4% |
1/72 |
Urogenital |
|
|
Abnormality of the urogenital system |
36.4% |
20/55 |
Cryptorchidism |
7.3% |
4/55 |
Bilateral cryptorchidism |
5.5% |
3/55 |
Unilateral cryptorchidism |
5.5% |
3/55 |
Vesicoureteral reflux |
5.5% |
3/55 |
Hernia |
3.6% |
2/55 |
Abnormality of the ureter |
1.8% |
1/55 |
Abnormality of the breast |
1.8% |
1/55 |
Abnormal renal physiology |
1.8% |
1/55 |
Abnormality of the penis |
1.8% |
1/55 |
Autonomic bladder dysfunction |
1.8% |
1/55 |
Micropenis |
1.8% |
1/55 |
Urinary incontinence |
1.8% |
1/55 |
Skeleton |
|
|
Skeletal abnormalities |
63.2% |
43/68 |
Scoliosis |
16.2% |
11/68 |
Pectus excavatum |
10.3% |
7/68 |
Sandal gap |
10.3% |
7/68 |
Joint hypermobility |
8.8% |
6/68 |
Long hallux |
8.8% |
6/68 |
Finger joint hypermobility |
5.9% |
4/68 |
Increased laxity of fingers |
5.9% |
4/68 |
Pes planus |
4.4% |
3/68 |
Brachydactyly syndrome |
2.9% |
2/68 |
Clinodactyly |
2.9% |
2/68 |
Clinodactyly of the 5th finger |
2.9% |
2/68 |
Hand polydactyly |
2.9% |
2/68 |
Plagiocephaly |
2.9% |
2/68 |
Tapered finger |
2.9% |
2/68 |
Abnormality of the hip joint |
1.5% |
1/68 |
Abnormality of the 5th finger |
1.5% |
1/68 |
Abnormality of the thumb |
1.5% |
1/68 |
Abnormality of the distal phalanx of finger |
1.5% |
1/68 |
Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
1.5% |
1/68 |
Asymmetric short stature |
1.5% |
1/68 |
Asymmetric growth |
1.5% |
1/68 |
Broad thumb |
1.5% |
1/68 |
Broad distal phalanx of finger |
1.5% |
1/68 |
Enlarged interphalangeal joints |
1.5% |
1/68 |
Enlarged epiphyses of the distal phalanges of the hand |
1.5% |
1/68 |
Hallux valgus |
1.5% |
1/68 |
Hip dysplasia |
1.5% |
1/68 |
Joint contractures involving the joints of the feet |
1.5% |
1/68 |
Lambdoidal craniosynostosis |
1.5% |
1/68 |
Lower limb asymmetry |
1.5% |
1/68 |
Marked delay in bone age |
1.5% |
1/68 |
Patellar dislocation |
1.5% |
1/68 |
Pectus excavatum of inferior sternum |
1.5% |
1/68 |
Pectus carinatum |
1.5% |
1/68 |
Posterior plagiocephaly |
1.5% |
1/68 |
Prominent interphalangeal joints |
1.5% |
1/68 |
Short foot |
1.5% |
1/68 |
Short neck |
1.5% |
1/68 |
Short lower limbs |
1.5% |
1/68 |
Superior pectus carinatum |
1.5% |
1/68 |
Thoracic kyphoscoliosis |
1.5% |
1/68 |
Type A brachydactyly |
1.5% |
1/68 |
Wormian bones |
1.5% |
1/68 |
2-3 toe syndactyly |
1.5% |
1/68 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
54.0% |
34/63 |
Eczema |
15.9% |
10/63 |
Prominent fingertip pads |
7.9% |
5/63 |
Hirsutism |
6.3% |
4/63 |
Abnormality of the nail |
4.8% |
3/63 |
Single transverse palmar crease |
4.8% |
3/63 |
Abnormality of the fingernails |
3.2% |
2/63 |
Advanced eruption of teeth |
3.2% |
2/63 |
Fine hair |
3.2% |
2/63 |
Prominent eyelashes |
3.2% |
2/63 |
Sparse hair |
3.2% |
2/63 |
Thick hair |
3.2% |
2/63 |
Thin nail |
3.2% |
2/63 |
Abnormality of dental eruption |
1.6% |
1/63 |
Abnormal position of hair whorl |
1.6% |
1/63 |
Abnormality of hair texture |
1.6% |
1/63 |
Abnormality of dental enamel |
1.6% |
1/63 |
Abnormality of the nipple |
1.6% |
1/63 |
Absent toenail |
1.6% |
1/63 |
Cutis marmorata |
1.6% |
1/63 |
Deep-set nails |
1.6% |
1/63 |
Delayed eruption of teeth |
1.6% |
1/63 |
High anterior hairline |
1.6% |
1/63 |
Hypoplastic fifth fingernail |
1.6% |
1/63 |
Ichthyosis |
1.6% |
1/63 |
Inverted nipples |
1.6% |
1/63 |
Oligodontia |
1.6% |
1/63 |
Premature eruption of permanent teeth |
1.6% |
1/63 |
Short nail |
1.6% |
1/63 |
Small nail |
1.6% |
1/63 |
Vascular skin abnormality |
1.6% |
1/63 |
2-3 toe syndactyly |
1.6% |
1/63 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
30.6% |
15/49 |
Hypothyroidism |
14.3% |
7/49 |
Growth hormone deficiency |
12.2% |
6/49 |
Abnormality of the menstrual cycle |
2.0% |
1/49 |
Hirsutism |
2.0% |
1/49 |
Hypoglycemia |
2.0% |
1/49 |
Precocious puberty in males |
2.0% |
1/49 |
Abnormality of the metabolic system |
10.0% |
3/30 |
Obesity |
6.7% |
2/30 |
Abnormality of body weight |
3.3% |
1/30 |
Abnormality of the immune system |
42.0% |
29/69 |
Recurrent infections |
26.1% |
18/69 |
Recurrent upper respiratory tract infections |
4.3% |
3/69 |
Chronic otitis media |
2.9% |
2/69 |
Recurrent respiratory infections |
2.9% |
2/69 |
Recurrent otitis media |
2.9% |
2/69 |
Fever |
1.4% |
1/69 |
Recurrent urinary tract infections |
1.4% |
1/69 |
Neoplasia |
|
|
Neoplasia |
1.5% |
1/66 |
Nephroblastoma (Wilms tumor) |
1.5% |
1/66 |