| Gender |
|
|
| Male |
46.6% |
55/118 |
| Female |
53.4% |
63/118 |
| Indifferent |
0% |
0/118 |
| Unknown |
0% |
0/118 |
| General |
|
|
| Birth Length abnormalities |
1.7% |
2/118 |
| > P98 : Birth length greater than 97th percentile |
1.7% |
2/118 |
| Birth Weight abnormalities |
0.8% |
1/118 |
| > P98 : Large for gestational age |
0.8% |
1/118 |
| Birth Head circumference abnormalities |
3.4% |
4/118 |
| > P98 : Macrocephaly at birth |
3.4% |
4/118 |
| Current Height abnormalities |
6.8% |
8/118 |
| < P3 : Short stature |
3.4% |
4/118 |
| > P98 : Tall stature |
3.4% |
4/118 |
| Current Weight abnormalities |
11.9% |
14/118 |
| < P3 : Decreased body weight |
6.8% |
8/118 |
| > P98 : Increased body weight |
5.1% |
6/118 |
| Current Head circumference abnormalities |
43.2% |
51/118 |
| > P98 : Macrocephaly |
40.7% |
48/118 |
| < P3 : Microcephaly |
2.5% |
3/118 |
| Neurology |
|
|
| Neurological abnormalities |
70.1% |
75/107 |
| Muscular hypotonia |
60.7% |
65/107 |
| Seizures |
7.5% |
8/107 |
| Broad-based gait |
4.7% |
5/107 |
| Gait disturbance |
3.7% |
4/107 |
| Dystonia |
2.8% |
3/107 |
| Postural instability |
2.8% |
3/107 |
| Unsteady gait |
2.8% |
3/107 |
| Abnormality of coordination |
1.9% |
2/107 |
| Abnormality of pain sensation |
1.9% |
2/107 |
| Chorea |
0.9% |
1/107 |
| Dysphagia |
0.9% |
1/107 |
| EEG abnormality |
0.9% |
1/107 |
| Epileptic spasms |
0.9% |
1/107 |
| Externally rotated/abducted legs |
0.9% |
1/107 |
| Febrile seizures |
0.9% |
1/107 |
| Hypsarrhythmia |
0.9% |
1/107 |
| Involuntary movements |
0.9% |
1/107 |
| Neurological speech impairment |
0.9% |
1/107 |
| Oculogyric crisis |
0.9% |
1/107 |
| Parkinsonism |
0.9% |
1/107 |
| Poor coordination |
0.9% |
1/107 |
| Poor head control |
0.9% |
1/107 |
| Progressive muscle weakness |
0.9% |
1/107 |
| Resting tremor |
0.9% |
1/107 |
| Spastic tetraplegia |
0.9% |
1/107 |
| Spasticity |
0.9% |
1/107 |
| Tetraparesis |
0.9% |
1/107 |
| Tip-toe gait |
0.9% |
1/107 |
| Tremor |
0.9% |
1/107 |
| Behavioral problems |
44.5% |
49/110 |
| Autistic behavior |
29.1% |
32/110 |
| Short attention span |
4.5% |
5/110 |
| Behavioral abnormality |
3.6% |
4/110 |
| Stereotypic behavior |
3.6% |
4/110 |
| Autism |
2.7% |
3/110 |
| Hyperactivity |
2.7% |
3/110 |
| Recurrent hand flapping |
2.7% |
3/110 |
| Aggressive behavior |
1.8% |
2/110 |
| Attention deficit hyperactivity disorder |
1.8% |
2/110 |
| Bruxism |
1.8% |
2/110 |
| Echolalia |
1.8% |
2/110 |
| Inflexible adherence to routines or rituals |
1.8% |
2/110 |
| Restlessness |
1.8% |
2/110 |
| Abnormal drinking behavior |
0.9% |
1/110 |
| Bipolar affective disorder |
0.9% |
1/110 |
| Drooling |
0.9% |
1/110 |
| Expressive language delay |
0.9% |
1/110 |
| Head-banging |
0.9% |
1/110 |
| Neurological speech impairment |
0.9% |
1/110 |
| Obsessive-compulsive behavior |
0.9% |
1/110 |
| Oppositional defiant disorder |
0.9% |
1/110 |
| Overfriendliness |
0.9% |
1/110 |
| Receptive language delay |
0.9% |
1/110 |
| Schizophrenia |
0.9% |
1/110 |
| Self-injurious behavior |
0.9% |
1/110 |
| Shyness |
0.9% |
1/110 |
| Sleep disturbance |
0.9% |
1/110 |
| Speech apraxia |
0.9% |
1/110 |
| Stereotypical hand wringing |
0.9% |
1/110 |
| Tics |
0.9% |
1/110 |
| Brain abnormality |
58.4% |
52/89 |
| Arnold-Chiari malformation |
14.6% |
13/89 |
| Ventriculomegaly |
11.2% |
10/89 |
| Morphological abnormality of the central nervous system |
6.7% |
6/89 |
| Abnormality of the cerebral ventricles |
5.6% |
5/89 |
| Abnormality of the nervous system |
4.5% |
4/89 |
| Delayed myelination |
4.5% |
4/89 |
| Abnormality of the cerebrum |
2.2% |
2/89 |
| Abnormality of the cerebral white matter |
2.2% |
2/89 |
| Abnormality of the corpus callosum |
2.2% |
2/89 |
| Abnormality of the cerebral cortex |
2.2% |
2/89 |
| Perivascular spaces |
2.2% |
2/89 |
| Abnormality of the cerebrospinal fluid |
1.1% |
1/89 |
| Abnormality of the periventricular white matter |
1.1% |
1/89 |
| Cerebral atrophy |
1.1% |
1/89 |
| Cortical dysplasia |
1.1% |
1/89 |
| Encephalomalacia |
1.1% |
1/89 |
| Limbic malformations |
1.1% |
1/89 |
| Periventricular cysts |
1.1% |
1/89 |
| Periventricular leukomalacia |
1.1% |
1/89 |
| Porencephaly |
1.1% |
1/89 |
| Short corpus callosum |
1.1% |
1/89 |
| Small posterior fossa |
1.1% |
1/89 |
| Widened subarachnoid space |
1.1% |
1/89 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
21.7% |
23/106 |
| Low-set, posteriorly rotated ears |
5.7% |
6/106 |
| Low-set ears |
4.7% |
5/106 |
| Posteriorly rotated ears |
4.7% |
5/106 |
| Abnormality of the pinna |
1.9% |
2/106 |
| Microtia |
1.9% |
2/106 |
| Cupped ear |
0.9% |
1/106 |
| Large fleshy ears |
0.9% |
1/106 |
| Macrotia |
0.9% |
1/106 |
| Overfolded helix |
0.9% |
1/106 |
| Prominent ear helix |
0.9% |
1/106 |
| Abnormality of the eye |
81.4% |
83/102 |
| Hypertelorism |
59.8% |
61/102 |
| Deeply set eye |
31.4% |
32/102 |
| Telecanthus |
11.8% |
12/102 |
| Small palpebral fissure |
10.8% |
11/102 |
| Ptosis |
3.9% |
4/102 |
| Downslanted palpebral fissures |
2.9% |
3/102 |
| Epicanthus |
2.0% |
2/102 |
| Upslanted palpebral fissure |
2.0% |
2/102 |
| Blue sclerae |
1.0% |
1/102 |
| Prominent epicanthal folds |
1.0% |
1/102 |
| Proptosis |
1.0% |
1/102 |
| Short palpebral fissure |
1.0% |
1/102 |
| Abnormality of the nose |
39.6% |
42/106 |
| Wide nasal bridge |
34.0% |
36/106 |
| Prominent nose |
6.6% |
7/106 |
| Broad nasal tip |
5.7% |
6/106 |
| Bifid nose |
0.9% |
1/106 |
| Convex nasal ridge |
0.9% |
1/106 |
| Depressed nasal bridge |
0.9% |
1/106 |
| Prominent nasal tip |
0.9% |
1/106 |
| Short nose |
0.9% |
1/106 |
| Wide nose |
0.9% |
1/106 |
| Abnormality of the mouth |
63.1% |
65/103 |
| Thin upper lip vermilion |
38.8% |
40/103 |
| High palate |
9.7% |
10/103 |
| Abnormality of the teeth |
5.8% |
6/103 |
| Narrow mouth |
2.9% |
3/103 |
| Dental crowding |
1.9% |
2/103 |
| High, narrow palate |
1.9% |
2/103 |
| Retrognathia |
1.9% |
2/103 |
| Abnormality of the gingiva |
1.0% |
1/103 |
| Abnormality of dental morphology |
1.0% |
1/103 |
| Agenesis of incisor |
1.0% |
1/103 |
| Agenesis of maxillary lateral incisor |
1.0% |
1/103 |
| Bifid uvula |
1.0% |
1/103 |
| Cleft palate |
1.0% |
1/103 |
| Conical incisor |
1.0% |
1/103 |
| Delayed eruption of permanent teeth |
1.0% |
1/103 |
| Diastema |
1.0% |
1/103 |
| Hypoplasia of dental enamel |
1.0% |
1/103 |
| Macrodontia |
1.0% |
1/103 |
| Mandibular prognathia |
1.0% |
1/103 |
| Micrognathia |
1.0% |
1/103 |
| Microdontia |
1.0% |
1/103 |
| Misalignment of teeth |
1.0% |
1/103 |
| Narrow palate |
1.0% |
1/103 |
| Selective tooth agenesis |
1.0% |
1/103 |
| Taurodontia |
1.0% |
1/103 |
| Widely spaced teeth |
1.0% |
1/103 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
7.1% |
8/113 |
| Abnormality of the auditory canal |
2.7% |
3/113 |
| Hearing impairment |
2.7% |
3/113 |
| Conductive hearing impairment |
0.9% |
1/113 |
| Hyperacusis |
0.9% |
1/113 |
| Abnormal vision |
53.9% |
62/115 |
| Strabismus |
15.7% |
18/115 |
| Abnormality of vision |
13.9% |
16/115 |
| Hypermetropia |
11.3% |
13/115 |
| Cortical visual impairment |
6.1% |
7/115 |
| Astigmatism |
4.3% |
5/115 |
| Myopia |
3.5% |
4/115 |
| Abnormal stereopsis |
1.7% |
2/115 |
| Abnormality of the eye |
1.7% |
2/115 |
| Abnormality of refraction |
1.7% |
2/115 |
| Amblyopia |
1.7% |
2/115 |
| Exotropia |
1.7% |
2/115 |
| Hyperopic astigmatism |
1.7% |
2/115 |
| Abnormality of eye movement |
0.9% |
1/115 |
| Entropion |
0.9% |
1/115 |
| Nasolacrimal duct obstruction |
0.9% |
1/115 |
| Nystagmus |
0.9% |
1/115 |
| Unilateral strabismus |
0.9% |
1/115 |
| Heart |
|
|
| Abnormality of the heart |
7.8% |
9/116 |
| Atria septal defect |
3.4% |
4/116 |
| Abnormality of the right ventricle |
0.9% |
1/116 |
| Aortic dilatation |
0.9% |
1/116 |
| Patent ductus arteriosus |
0.9% |
1/116 |
| Patent foramen ovale |
0.9% |
1/116 |
| Perimembranous ventricular septal defect |
0.9% |
1/116 |
| Ventricular septal defect |
0.9% |
1/116 |
| Pulmonary |
|
|
| Abnormality of the lungs |
1.3% |
1/80 |
| Obstructive sleep apnea |
1.3% |
1/80 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
6.8% |
8/117 |
| Gastroesophageal reflux |
3.4% |
4/117 |
| Constipation |
1.7% |
2/117 |
| Esophagitis |
0.9% |
1/117 |
| Intestinal atresia |
0.9% |
1/117 |
| Volvulus |
0.9% |
1/117 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
15.2% |
17/112 |
| Cryptorchidism |
4.5% |
5/112 |
| Abnormality of male external genitalia |
1.8% |
2/112 |
| Bilateral cryptorchidism |
1.8% |
2/112 |
| Unilateral cryptorchidism |
1.8% |
2/112 |
| Abnormality of the menstrual cycle |
0.9% |
1/112 |
| Abnormality of the bladder |
0.9% |
1/112 |
| Anteriorly placed anus |
0.9% |
1/112 |
| Hypospadias |
0.9% |
1/112 |
| Nephrolithiasis |
0.9% |
1/112 |
| Polycystic ovaries |
0.9% |
1/112 |
| Retractile testis |
0.9% |
1/112 |
| Unilateral renal hypoplasia |
0.9% |
1/112 |
| Vesicoureteral reflux |
0.9% |
1/112 |
| Webbed penis |
0.9% |
1/112 |
| Skeleton |
|
|
| Skeletal abnormalities |
50.9% |
56/110 |
| Joint laxity |
31.8% |
35/110 |
| Scoliosis |
5.5% |
6/110 |
| Joint hypermobility |
3.6% |
4/110 |
| Pes planus |
3.6% |
4/110 |
| Abnormality of the sternum |
1.8% |
2/110 |
| Cleft palate |
1.8% |
2/110 |
| Lumbar hyperlordosis |
1.8% |
2/110 |
| Tapered finger |
1.8% |
2/110 |
| Abnormal joint morphology |
0.9% |
1/110 |
| Abnormality of the ankles |
0.9% |
1/110 |
| Abnormality of the parietal bone |
0.9% |
1/110 |
| Abnormality of the hallux |
0.9% |
1/110 |
| Adducted thumb |
0.9% |
1/110 |
| Arachnodactyly |
0.9% |
1/110 |
| Arthritis |
0.9% |
1/110 |
| Broad palm |
0.9% |
1/110 |
| Camptodactyly of finger |
0.9% |
1/110 |
| Coxa vara |
0.9% |
1/110 |
| Cubitus valgus |
0.9% |
1/110 |
| Down-sloping shoulders |
0.9% |
1/110 |
| Generalized joint laxity |
0.9% |
1/110 |
| Hip dysplasia |
0.9% |
1/110 |
| Hyperextensible thumb |
0.9% |
1/110 |
| Hyperextensibility of the knee |
0.9% |
1/110 |
| Increased laxity of ankles |
0.9% |
1/110 |
| Kyphosis |
0.9% |
1/110 |
| Osteoporosis |
0.9% |
1/110 |
| Pectus carinatum |
0.9% |
1/110 |
| Pes cavus |
0.9% |
1/110 |
| Proportionate short stature |
0.9% |
1/110 |
| Sagittal craniosynostosis |
0.9% |
1/110 |
| Short finger |
0.9% |
1/110 |
| Shoulder subluxation |
0.9% |
1/110 |
| Subluxation of the small joints of the hand |
0.9% |
1/110 |
| Talipes cavus equinovarus |
0.9% |
1/110 |
| Thoracic kyphosis |
0.9% |
1/110 |
| Valgus foot deformity |
0.9% |
1/110 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
28.4% |
33/116 |
| Sparse eyebrow |
12.1% |
14/116 |
| Cafe-au-lait spot |
2.6% |
3/116 |
| Sacral dimple |
2.6% |
3/116 |
| Dry skin |
1.7% |
2/116 |
| Eczema |
1.7% |
2/116 |
| Abnormality of skin pigmentation |
0.9% |
1/116 |
| Abnormal position of hair whorl |
0.9% |
1/116 |
| Atypical scarring of skin |
0.9% |
1/116 |
| Concave nail |
0.9% |
1/116 |
| Decreased subcutaneous fat |
0.9% |
1/116 |
| Deep longitudinal plantar crease |
0.9% |
1/116 |
| Few cafe-au-lait spots |
0.9% |
1/116 |
| High anterior hairline |
0.9% |
1/116 |
| Hirsutism |
0.9% |
1/116 |
| Hypertrichosis |
0.9% |
1/116 |
| Hypermelanotic macule |
0.9% |
1/116 |
| Localized skin lesion |
0.9% |
1/116 |
| Nevus flammeus |
0.9% |
1/116 |
| Patchy hypopigmentation of hair |
0.9% |
1/116 |
| Redundant neck skin |
0.9% |
1/116 |
| Supernumerary nipple |
0.9% |
1/116 |
| Thin fingernail |
0.9% |
1/116 |
| Thin toenail |
0.9% |
1/116 |
| Toenail dysplasia |
0.9% |
1/116 |
| Vascular skin abnormality |
0.9% |
1/116 |
| Widow's peak |
0.9% |
1/116 |
| 2-3 toe cutaneous syndactyly |
0.9% |
1/116 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
2.6% |
3/117 |
| Diabetes mellitus |
0.9% |
1/117 |
| Hypergonadotropic hypogonadism |
0.9% |
1/117 |
| Thyroid hemiagenesis |
0.9% |
1/117 |
| Abnormality of the metabolic system |
1.7% |
2/117 |
| Abnormality of alkaline phosphatase activity |
0.9% |
1/117 |
| Hypercalcemia |
0.9% |
1/117 |
| Abnormality of the immune system |
3.4% |
4/117 |
| Recurrent respiratory infections |
1.7% |
2/117 |
| Interstitial pneumonitis |
0.9% |
1/117 |
| Pyelonephritis |
0.9% |
1/117 |
| Recurrent infections |
0.9% |
1/117 |
| Neoplasia |
|
|
| Neoplasia |
0.9% |
1/117 |
| Osteochondroma |
0.9% |
1/117 |