Gender |
|
|
Male |
43.0% |
80/186 |
Female |
57.0% |
106/186 |
Indifferent |
0% |
0/186 |
Unknown |
0% |
0/186 |
General |
|
|
Birth Length abnormalities |
5.7% |
9/157 |
> P98 : Birth length greater than 97th percentile |
0.6% |
1/157 |
< P3 : Birth length less than 3rd percentile |
5.1% |
8/157 |
Birth Weight abnormalities |
15.2% |
27/178 |
< P3 : Small for gestational age |
15.2% |
27/178 |
Birth Head circumference abnormalities |
2.5% |
4/158 |
> P98 : Macrocephaly at birth |
1.9% |
3/158 |
< P3 : Congenital microcephaly |
0.6% |
1/158 |
Current Height abnormalities |
18.4% |
33/179 |
< P3 : Short stature |
17.9% |
32/179 |
> P98 : Tall stature |
0.6% |
1/179 |
Current Weight abnormalities |
8.7% |
15/173 |
< P3 : Decreased body weight |
8.1% |
14/173 |
> P98 : Increased body weight |
0.6% |
1/173 |
Current Head circumference abnormalities |
8.9% |
16/180 |
> P98 : Macrocephaly |
6.1% |
11/180 |
< P3 : Microcephaly |
2.8% |
5/180 |
Neurology |
|
|
Neurological abnormalities |
92.9% |
158/170 |
Generalized hypotonia |
67.6% |
115/170 |
Seizures |
35.9% |
61/170 |
EEG abnormality |
20.6% |
35/170 |
Neonatal hypotonia |
4.7% |
8/170 |
Generalized tonic-clonic seizures |
3.5% |
6/170 |
Speech apraxia |
2.9% |
5/170 |
Febrile seizures |
2.4% |
4/170 |
Absence seizures |
1.8% |
3/170 |
Dysarthria |
1.8% |
3/170 |
Global developmental delay |
1.8% |
3/170 |
Status epilepticus |
1.8% |
3/170 |
Delayed speech and language development |
1.2% |
2/170 |
Focal seizures |
1.2% |
2/170 |
Impaired pain sensation |
1.2% |
2/170 |
Unsteady gait |
1.2% |
2/170 |
Abnormality of the periventricular white matter |
0.6% |
1/170 |
Ankle clonus |
0.6% |
1/170 |
Apraxia |
0.6% |
1/170 |
Ataxia |
0.6% |
1/170 |
Atonic seizures |
0.6% |
1/170 |
Broad-based gait |
0.6% |
1/170 |
Communicating hydrocephalus |
0.6% |
1/170 |
Dysmetria |
0.6% |
1/170 |
EEG with focal sharp slow waves |
0.6% |
1/170 |
EEG with generalized epileptiform discharges |
0.6% |
1/170 |
Epileptiform EEG discharges |
0.6% |
1/170 |
Epileptic spasms |
0.6% |
1/170 |
Gait ataxia |
0.6% |
1/170 |
Generalized muscle weakness |
0.6% |
1/170 |
Generalized clonic seizures |
0.6% |
1/170 |
Hemiclonic seizures |
0.6% |
1/170 |
Hemiparesis |
0.6% |
1/170 |
Hypertonia |
0.6% |
1/170 |
Hypsarrhythmia |
0.6% |
1/170 |
Impaired visuospatial constructive cognition |
0.6% |
1/170 |
Inability to walk |
0.6% |
1/170 |
Infantile muscular hypotonia |
0.6% |
1/170 |
Infantile spasms |
0.6% |
1/170 |
Limb apraxia |
0.6% |
1/170 |
Lower limb hyperreflexia |
0.6% |
1/170 |
Medulloblastoma |
0.6% |
1/170 |
Moderate global developmental delay |
0.6% |
1/170 |
Muscle weakness |
0.6% |
1/170 |
Neurological speech impairment |
0.6% |
1/170 |
Oromotor apraxia |
0.6% |
1/170 |
Severe muscular hypotonia |
0.6% |
1/170 |
Simple febrile seizures |
0.6% |
1/170 |
Tetraplegia |
0.6% |
1/170 |
Behavioral problems |
88.8% |
142/160 |
Overfriendliness |
48.8% |
78/160 |
Anxiety |
10.6% |
17/160 |
Global developmental delay |
10.6% |
17/160 |
Abnormal social behavior |
8.1% |
13/160 |
Attention deficit hyperactivity disorder |
8.1% |
13/160 |
Short attention span |
6.3% |
10/160 |
Autistic behavior |
5.0% |
8/160 |
Hyperactivity |
5.0% |
8/160 |
Poor eye contact |
5.0% |
8/160 |
Behavioral abnormality |
4.4% |
7/160 |
Impaired social interactions |
2.5% |
4/160 |
Obsessive-compulsive behavior |
2.5% |
4/160 |
Stereotypic behavior |
2.5% |
4/160 |
Impulsivity |
1.9% |
3/160 |
Inflexible adherence to routines or rituals |
1.9% |
3/160 |
Aggressive behavior |
1.3% |
2/160 |
Oppositional defiant disorder |
1.3% |
2/160 |
Perseveration |
1.3% |
2/160 |
Shyness |
1.3% |
2/160 |
Sleep disturbance |
1.3% |
2/160 |
Agitation |
0.6% |
1/160 |
Delayed social development |
0.6% |
1/160 |
Depression |
0.6% |
1/160 |
Eye poking |
0.6% |
1/160 |
Insomnia |
0.6% |
1/160 |
Irritability |
0.6% |
1/160 |
Phonophobia |
0.6% |
1/160 |
Polydipsia |
0.6% |
1/160 |
Polyphagia |
0.6% |
1/160 |
Psychosis |
0.6% |
1/160 |
Seizures |
0.6% |
1/160 |
Self-biting |
0.6% |
1/160 |
Brain abnormality |
61.4% |
70/114 |
Ventriculomegaly |
15.8% |
18/114 |
Aplasia/Hypoplasia of the corpus callosum |
7.0% |
8/114 |
Abnormality of the cerebral ventricles |
5.3% |
6/114 |
Hydrocephalus |
5.3% |
6/114 |
Hypoplasia of the corpus callosum |
5.3% |
6/114 |
Agenesis of corpus callosum |
4.4% |
5/114 |
EEG abnormality |
4.4% |
5/114 |
Dilation of lateral ventricles |
3.5% |
4/114 |
Delayed CNS myelination |
2.6% |
3/114 |
Perivascular spaces |
2.6% |
3/114 |
Abnormality of the cerebral white matter |
1.8% |
2/114 |
Abnormality of lateral ventricle |
1.8% |
2/114 |
Abnormality of the corpus callosum |
1.8% |
2/114 |
Arnold-Chiari type I malformation |
1.8% |
2/114 |
Cerebral white matter atrophy |
1.8% |
2/114 |
Cerebral atrophy |
1.8% |
2/114 |
Choroid plexus cyst |
1.8% |
2/114 |
Dysplastic corpus callosum |
1.8% |
2/114 |
Heterotopia |
1.8% |
2/114 |
Abnormality of the periventricular white matter |
0.9% |
1/114 |
Abnormality of neuronal migration |
0.9% |
1/114 |
Abnormality of brain morphology |
0.9% |
1/114 |
Abnormality of the posterior cranial fossa |
0.9% |
1/114 |
Abnormality of the pituitary gland |
0.9% |
1/114 |
Abnormality of the posterior pituitary |
0.9% |
1/114 |
Abnormality of the septum pellucidum |
0.9% |
1/114 |
Anterior pituitary hypoplasia |
0.9% |
1/114 |
Cerebral hemorrhage |
0.9% |
1/114 |
Cerebellar hypoplasia |
0.9% |
1/114 |
Cervical cord compression |
0.9% |
1/114 |
Colpocephaly |
0.9% |
1/114 |
Communicating hydrocephalus |
0.9% |
1/114 |
Cortical dysplasia |
0.9% |
1/114 |
Cranial nerve VI palsy |
0.9% |
1/114 |
Dolichocephaly |
0.9% |
1/114 |
Dural ectasia |
0.9% |
1/114 |
Enlarged cisterna magna |
0.9% |
1/114 |
Generalized cerebral atrophy/hypoplasia |
0.9% |
1/114 |
Gliosis |
0.9% |
1/114 |
Gray matter heterotopias |
0.9% |
1/114 |
Hydromyelia |
0.9% |
1/114 |
Intraventricular hemorrhage |
0.9% |
1/114 |
Limbic malformations |
0.9% |
1/114 |
Macrocephaly |
0.9% |
1/114 |
Medulloblastoma |
0.9% |
1/114 |
Partial agenesis of the corpus callosum |
0.9% |
1/114 |
Periventricular white matter hypodensities |
0.9% |
1/114 |
Pineal cyst |
0.9% |
1/114 |
Spina bifida |
0.9% |
1/114 |
Syringomyelia |
0.9% |
1/114 |
Tethered cord |
0.9% |
1/114 |
Widened subarachnoid space |
0.9% |
1/114 |
Facial abnormalities |
|
|
Abnormality of the ear |
66.4% |
85/128 |
Macrotia |
31.3% |
40/128 |
Protruding ear |
28.9% |
37/128 |
Low-set ears |
25.0% |
32/128 |
Anteverted ears |
4.7% |
6/128 |
Low-set, posteriorly rotated ears |
4.7% |
6/128 |
Microtia |
3.9% |
5/128 |
Cupped ear |
3.1% |
4/128 |
Overfolded helix |
2.3% |
3/128 |
Large earlobe |
1.6% |
2/128 |
Preauricular pit |
1.6% |
2/128 |
Small earlobe |
1.6% |
2/128 |
Underdeveloped crus of the helix |
1.6% |
2/128 |
Abnormality of the helix |
0.8% |
1/128 |
Abnormality of the pinna |
0.8% |
1/128 |
Abnormality of earlobe |
0.8% |
1/128 |
Abnormally folded helix |
0.8% |
1/128 |
Darwin tubercle of helix |
0.8% |
1/128 |
Hypoplasia of the ear cartilage |
0.8% |
1/128 |
Overfolding of the superior helices |
0.8% |
1/128 |
Posteriorly rotated ears |
0.8% |
1/128 |
Prominent ear helix |
0.8% |
1/128 |
Round ear |
0.8% |
1/128 |
Stenosis of the external auditory canal |
0.8% |
1/128 |
Thickened ears |
0.8% |
1/128 |
Thickened helices |
0.8% |
1/128 |
Underdeveloped superior crus of antihelix |
0.8% |
1/128 |
Abnormality of the eye |
91.2% |
124/136 |
Upslanted palpebral fissure |
52.9% |
72/136 |
Epicanthus |
41.2% |
56/136 |
Ptosis |
27.9% |
38/136 |
Blepharophimosis |
24.3% |
33/136 |
Hypertelorism |
14.0% |
19/136 |
Iris hypopigmentation |
11.8% |
16/136 |
Prominent epicanthal folds |
5.9% |
8/136 |
Sparse eyebrow |
4.4% |
6/136 |
Strabismus |
4.4% |
6/136 |
Deeply set eye |
3.7% |
5/136 |
Astigmatism |
2.2% |
3/136 |
Short palpebral fissure |
2.2% |
3/136 |
Hypermetropia |
1.5% |
2/136 |
Small palpebral fissure |
1.5% |
2/136 |
Telecanthus |
1.5% |
2/136 |
Abnormality of the lens |
0.7% |
1/136 |
Almond-shaped palpebral fissure |
0.7% |
1/136 |
Downslanted palpebral fissures |
0.7% |
1/136 |
Epicanthus inversus |
0.7% |
1/136 |
Esotropia |
0.7% |
1/136 |
Exotropia |
0.7% |
1/136 |
Facial hemangioma |
0.7% |
1/136 |
Heterochromia iridis |
0.7% |
1/136 |
Infra-orbital crease |
0.7% |
1/136 |
Lacrimal duct stenosis |
0.7% |
1/136 |
Nystagmus |
0.7% |
1/136 |
Periorbital fullness |
0.7% |
1/136 |
Severe Myopia |
0.7% |
1/136 |
Thick eyebrow |
0.7% |
1/136 |
Abnormality of the nose |
91.5% |
119/130 |
Bulbous nose |
63.8% |
83/130 |
Pear-shaped nose |
60.0% |
78/130 |
Prominent nasal bridge |
6.9% |
9/130 |
Broad nasal tip |
4.6% |
6/130 |
Underdeveloped nasal alae |
4.6% |
6/130 |
Wide nose |
4.6% |
6/130 |
Low hanging columella |
3.8% |
5/130 |
Prominent nasal tip |
3.8% |
5/130 |
Depressed nasal bridge |
3.1% |
4/130 |
Wide nasal base |
3.1% |
4/130 |
Wide nasal bridge |
3.1% |
4/130 |
Anteverted nares |
2.3% |
3/130 |
Long nose |
2.3% |
3/130 |
Prominent nose |
2.3% |
3/130 |
Thick nasal alae |
2.3% |
3/130 |
Broad columella |
1.5% |
2/130 |
Cleft ala nasi |
1.5% |
2/130 |
Abnormality of the nasal bridge |
0.8% |
1/130 |
Abnormality of the external nose |
0.8% |
1/130 |
Abnormality of the columella |
0.8% |
1/130 |
Hypoplastic nasal septum |
0.8% |
1/130 |
Narrow nose |
0.8% |
1/130 |
Nasal obstruction |
0.8% |
1/130 |
Short nose |
0.8% |
1/130 |
Abnormality of the mouth |
88.7% |
149/168 |
Everted lower lip vermilion |
23.8% |
40/168 |
Drooling |
18.5% |
31/168 |
High, narrow palate |
12.5% |
21/168 |
Chewing difficulties |
11.9% |
20/168 |
Open mouth |
10.7% |
18/168 |
Long philtrum |
10.1% |
17/168 |
High palate |
9.5% |
16/168 |
Broad chin |
7.7% |
13/168 |
Macroglossia |
7.1% |
12/168 |
Deep philtrum |
6.5% |
11/168 |
Protruding tongue |
5.4% |
9/168 |
Reduced number of teeth |
5.4% |
9/168 |
Thin upper lip vermilion |
5.4% |
9/168 |
Widely spaced teeth |
4.8% |
8/168 |
Microdontia |
4.2% |
7/168 |
Cleft palate |
3.6% |
6/168 |
Short philtrum |
3.6% |
6/168 |
Tented upper lip vermilion |
3.0% |
5/168 |
Thick lower lip vermilion |
3.0% |
5/168 |
Wide mouth |
3.0% |
5/168 |
Thick vermilion border |
2.4% |
4/168 |
Ankyloglossia |
1.8% |
3/168 |
Carious teeth |
1.8% |
3/168 |
Conical tooth |
1.8% |
3/168 |
Dental malocclusion |
1.8% |
3/168 |
Mandibular prognathia |
1.8% |
3/168 |
Oral cleft |
1.8% |
3/168 |
Smooth philtrum |
1.8% |
3/168 |
Bilateral cleft lip and palate |
1.2% |
2/168 |
Broad philtrum |
1.2% |
2/168 |
Diastema |
1.2% |
2/168 |
Downturned corners of mouth |
1.2% |
2/168 |
Gingival overgrowth |
1.2% |
2/168 |
Hypodontia |
1.2% |
2/168 |
Hypoplasia of dental enamel |
1.2% |
2/168 |
Micrognathia |
1.2% |
2/168 |
Retrognathia |
1.2% |
2/168 |
Thick upper lip vermilion |
1.2% |
2/168 |
Unilateral cleft lip |
1.2% |
2/168 |
Abnormality of the tongue |
0.6% |
1/168 |
Abnormal number of incisors |
0.6% |
1/168 |
Abnormality of the palate |
0.6% |
1/168 |
Abnormality of oral frenula |
0.6% |
1/168 |
Abnormality of the gingiva |
0.6% |
1/168 |
Abnormality of the lip |
0.6% |
1/168 |
Agenesis of lateral incisor |
0.6% |
1/168 |
Agenesis of maxillary incisor |
0.6% |
1/168 |
Agenesis of permanent teeth |
0.6% |
1/168 |
Agenesis of premolar |
0.6% |
1/168 |
Anterior open-bite malocclusion |
0.6% |
1/168 |
Bilateral cleft lip |
0.6% |
1/168 |
Cleft upper lip |
0.6% |
1/168 |
Conical maxillary incisor |
0.6% |
1/168 |
Conical incisor |
0.6% |
1/168 |
Everted upper lip vermilion |
0.6% |
1/168 |
Exaggerated median tongue furrow |
0.6% |
1/168 |
Overbite |
0.6% |
1/168 |
Thin vermilion border |
0.6% |
1/168 |
Unilateral cleft palate |
0.6% |
1/168 |
Widely-spaced maxillary central incisors |
0.6% |
1/168 |
Visual and hearing impairments |
|
|
Abnormal hearing |
20.9% |
27/129 |
Hearing impairment |
10.1% |
13/129 |
Conductive hearing impairment |
2.3% |
3/129 |
Mild conductive hearing impairment |
0.8% |
1/129 |
Mild hearing impairment |
0.8% |
1/129 |
Moderate sensorineural hearing impairment |
0.8% |
1/129 |
Unilateral conductive hearing impairment |
0.8% |
1/129 |
Abnormal vision |
55.6% |
89/160 |
Hypermetropia |
19.4% |
31/160 |
Strabismus |
18.1% |
29/160 |
Visual impairment |
8.8% |
14/160 |
Cataract |
2.5% |
4/160 |
Esotropia |
1.9% |
3/160 |
Myopia |
1.9% |
3/160 |
Cortical visual impairment |
1.3% |
2/160 |
Exotropia |
1.3% |
2/160 |
Nystagmus |
1.3% |
2/160 |
Optic disc pallor |
1.3% |
2/160 |
Abnormal amplitude of dark-adapted bright flash electroretinogram |
0.6% |
1/160 |
Abnormal iris pigmentation |
0.6% |
1/160 |
Abnormality of visual evoked potentials |
0.6% |
1/160 |
Abnormal amplitude of dark-adapted dim flash electroretinogram |
0.6% |
1/160 |
Abnormality of the optic disc |
0.6% |
1/160 |
Abnormality of macular pigmentation |
0.6% |
1/160 |
Abnormality of the vasculature of the eye |
0.6% |
1/160 |
Alternating esotropia |
0.6% |
1/160 |
Amblyopia |
0.6% |
1/160 |
Astigmatism |
0.6% |
1/160 |
Attenuation of retinal blood vessels |
0.6% |
1/160 |
Bone spicule pigmentation of the retina |
0.6% |
1/160 |
Brushfield spots |
0.6% |
1/160 |
Chorioretinal coloboma |
0.6% |
1/160 |
Congenital cataract |
0.6% |
1/160 |
Macular dystrophy |
0.6% |
1/160 |
Macular scarring |
0.6% |
1/160 |
Optic atrophy |
0.6% |
1/160 |
Vitreous floaters |
0.6% |
1/160 |
Heart |
|
|
Abnormality of the heart |
37.8% |
56/148 |
Atria septal defect |
10.8% |
16/148 |
Ventricular septal defect |
6.8% |
10/148 |
Abnormality of the atrial septum |
2.7% |
4/148 |
Bicuspid aortic valve |
2.7% |
4/148 |
Patent foramen ovale |
2.7% |
4/148 |
Abnormality of the ventricular septum |
2.0% |
3/148 |
Aortic dilatation |
2.0% |
3/148 |
Mitral regurgitation |
2.0% |
3/148 |
Secundum atrial septal defect |
2.0% |
3/148 |
Tricuspid regurgitation |
2.0% |
3/148 |
Abnormality of the cardiovascular system |
1.4% |
2/148 |
Cardiomyopathy |
1.4% |
2/148 |
Heart murmur |
1.4% |
2/148 |
Muscular ventricular septal defect |
1.4% |
2/148 |
Patent ductus arteriosus |
1.4% |
2/148 |
Abnormality of the systemic arterial tree |
0.7% |
1/148 |
Abnormality of the pulmonary veins |
0.7% |
1/148 |
Abnormality of the aortic valve |
0.7% |
1/148 |
Abnormality of the left ventricle |
0.7% |
1/148 |
Abnormality of the mitral valve |
0.7% |
1/148 |
Aortic valve stenosis |
0.7% |
1/148 |
Cyanosis |
0.7% |
1/148 |
Dysplastic pulmonary valve |
0.7% |
1/148 |
Dysplastic aortic valve |
0.7% |
1/148 |
Hypertension |
0.7% |
1/148 |
Mitral valve prolapse |
0.7% |
1/148 |
Prolonged QT interval |
0.7% |
1/148 |
Right ventricular dilatation |
0.7% |
1/148 |
Right atrial enlargement |
0.7% |
1/148 |
Tachypnea |
0.7% |
1/148 |
Ventricular aneurysm |
0.7% |
1/148 |
Pulmonary |
|
|
Abnormality of the lungs |
30.0% |
3/10 |
Asthma |
10.0% |
1/10 |
Pulmonic stenosis |
10.0% |
1/10 |
Respiratory infections in early life |
10.0% |
1/10 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
68.8% |
95/138 |
Feeding difficulties |
48.6% |
67/138 |
Gastroesophageal reflux |
9.4% |
13/138 |
Tracheomalacia |
7.2% |
10/138 |
Poor suck |
5.8% |
8/138 |
Constipation |
3.6% |
5/138 |
Feeding difficulties in infancy |
3.6% |
5/138 |
Inguinal hernia |
3.6% |
5/138 |
Umbilical hernia |
2.2% |
3/138 |
Chronic constipation |
1.4% |
2/138 |
Dysphagia |
1.4% |
2/138 |
Anal fistula |
0.7% |
1/138 |
Chewing difficulties |
0.7% |
1/138 |
Drooling |
0.7% |
1/138 |
Elevated hepatic transaminases |
0.7% |
1/138 |
Episodic vomiting |
0.7% |
1/138 |
Intestinal malrotation |
0.7% |
1/138 |
Laryngomalacia |
0.7% |
1/138 |
Pyloric stenosis |
0.7% |
1/138 |
Respiratory infections in early life |
0.7% |
1/138 |
Urogenital |
|
|
Abnormality of the urogenital system |
49.7% |
71/143 |
Cryptorchidism |
12.6% |
18/143 |
Hydronephrosis |
9.1% |
13/143 |
Vesicoureteral reflux |
7.0% |
10/143 |
Bilateral cryptorchidism |
5.6% |
8/143 |
Fetal pyelectasis |
2.8% |
4/143 |
Renal duplication |
2.8% |
4/143 |
Micropenis |
2.1% |
3/143 |
Dilatation of the renal pelvis |
1.4% |
2/143 |
Scrotal hypoplasia |
1.4% |
2/143 |
Ureteropelvic junction obstruction |
1.4% |
2/143 |
Abnormality of the bladder |
0.7% |
1/143 |
Abnormality of the kidney |
0.7% |
1/143 |
Enuresis nocturna |
0.7% |
1/143 |
Enuresis diurna |
0.7% |
1/143 |
Hypospadias |
0.7% |
1/143 |
Macroorchidism |
0.7% |
1/143 |
Multicystic kidney dysplasia |
0.7% |
1/143 |
Phimosis |
0.7% |
1/143 |
Polyuria |
0.7% |
1/143 |
Pyelonephritis |
0.7% |
1/143 |
Recurrent urinary tract infections |
0.7% |
1/143 |
Renal insufficiency |
0.7% |
1/143 |
Retractile testis |
0.7% |
1/143 |
Scrotal hypospadias |
0.7% |
1/143 |
Shawl scrotum |
0.7% |
1/143 |
Unilateral cryptorchidism |
0.7% |
1/143 |
Ureterocele |
0.7% |
1/143 |
Urinary incontinence |
0.7% |
1/143 |
Skeleton |
|
|
Skeletal abnormalities |
83.1% |
123/148 |
Joint laxity |
31.8% |
47/148 |
Pes planus |
16.2% |
24/148 |
Arachnodactyly |
14.9% |
22/148 |
Scoliosis |
11.5% |
17/148 |
Slender build |
9.5% |
14/148 |
Abnormality of the curvature of the vertebral column |
7.4% |
11/148 |
Narrow palm |
7.4% |
11/148 |
Hip dysplasia |
6.8% |
10/148 |
Pectus excavatum |
6.8% |
10/148 |
Joint hypermobility |
6.1% |
9/148 |
Positional foot deformity |
5.4% |
8/148 |
Abnormality of the musculature of the hand |
4.7% |
7/148 |
Hip dislocation |
4.1% |
6/148 |
Kyphosis |
4.1% |
6/148 |
Long fingers |
4.1% |
6/148 |
Abnormality of the hip joint |
3.4% |
5/148 |
Lower limb asymmetry |
3.4% |
5/148 |
Pes cavus |
3.4% |
5/148 |
Shield chest |
3.4% |
5/148 |
Abnormality of the sternum |
2.7% |
4/148 |
Broad thumb |
2.7% |
4/148 |
Hallux valgus |
2.7% |
4/148 |
Abnormality of the lower limb |
2.0% |
3/148 |
Clinodactyly of the 5th finger |
2.0% |
3/148 |
Dolichocephaly |
2.0% |
3/148 |
Genu valgum |
2.0% |
3/148 |
Short neck |
2.0% |
3/148 |
Slender finger |
2.0% |
3/148 |
Talipes equinovarus |
2.0% |
3/148 |
Bilateral talipes equinovarus |
1.4% |
2/148 |
Broad hallux |
1.4% |
2/148 |
Calcaneovalgus deformity |
1.4% |
2/148 |
Cervical spinal canal stenosis |
1.4% |
2/148 |
Clinodactyly |
1.4% |
2/148 |
Cubitus valgus |
1.4% |
2/148 |
Deviation of toes |
1.4% |
2/148 |
Generalized joint laxity |
1.4% |
2/148 |
Large hands |
1.4% |
2/148 |
Long foot |
1.4% |
2/148 |
Long toe |
1.4% |
2/148 |
Multiple joint dislocation |
1.4% |
2/148 |
Pectus carinatum |
1.4% |
2/148 |
Spondylolisthesis |
1.4% |
2/148 |
Thoracolumbar scoliosis |
1.4% |
2/148 |
Thoracic scoliosis |
1.4% |
2/148 |
Valgus foot deformity |
1.4% |
2/148 |
Abnormality of toe |
0.7% |
1/148 |
Abnormality of the thorax |
0.7% |
1/148 |
Abnormality of the acetabulum |
0.7% |
1/148 |
Abnormal number of vertebrae |
0.7% |
1/148 |
Ankle contracture |
0.7% |
1/148 |
Arthropathy |
0.7% |
1/148 |
Asymmetry of the thorax |
0.7% |
1/148 |
Bifid distal phalanx of the thumb |
0.7% |
1/148 |
Bilateral wrist flexion contracture |
0.7% |
1/148 |
Brachycephaly |
0.7% |
1/148 |
Broad neck |
0.7% |
1/148 |
Camptodactyly |
0.7% |
1/148 |
Clubbing of toes |
0.7% |
1/148 |
Congenital hip dislocation |
0.7% |
1/148 |
Congenital bilateral hip dislocation |
0.7% |
1/148 |
Coxa valga |
0.7% |
1/148 |
Decreased muscle mass |
0.7% |
1/148 |
Delayed skeletal maturation |
0.7% |
1/148 |
Delayed tarsal ossification |
0.7% |
1/148 |
Digital flexor tenosynovitis |
0.7% |
1/148 |
Disproportionate tall stature |
0.7% |
1/148 |
Elbow flexion contracture |
0.7% |
1/148 |
Finger joint hypermobility |
0.7% |
1/148 |
Fused lumbar vertebrae |
0.7% |
1/148 |
Fused cervical vertebrae |
0.7% |
1/148 |
Fused thoracic vertebrae |
0.7% |
1/148 |
Hammertoe |
0.7% |
1/148 |
Hemivertebrae |
0.7% |
1/148 |
Herniation of intervertebral nuclei |
0.7% |
1/148 |
Hip Subluxation |
0.7% |
1/148 |
Hyperlordosis |
0.7% |
1/148 |
Hyperextensibility at wrists |
0.7% |
1/148 |
Increased laxity of fingers |
0.7% |
1/148 |
Joint hyperflexibility |
0.7% |
1/148 |
Juvenile rheumatoid arthritis |
0.7% |
1/148 |
Knee dislocation |
0.7% |
1/148 |
Knee flexion contracture |
0.7% |
1/148 |
Limb joint contracture |
0.7% |
1/148 |
Limb undergrowth |
0.7% |
1/148 |
Long palm |
0.7% |
1/148 |
Long thorax |
0.7% |
1/148 |
Lumbar scoliosis |
0.7% |
1/148 |
Lumbar hyperlordosis |
0.7% |
1/148 |
Mandibular prognathia |
0.7% |
1/148 |
Metopic synostosis |
0.7% |
1/148 |
Narrow chest |
0.7% |
1/148 |
Narrow foot |
0.7% |
1/148 |
Overlapping toe |
0.7% |
1/148 |
Prominent fingertip pads |
0.7% |
1/148 |
Prominent metopic ridge |
0.7% |
1/148 |
Proximal placement of hallux |
0.7% |
1/148 |
Recurrent fractures |
0.7% |
1/148 |
Sagittal craniosynostosis |
0.7% |
1/148 |
Sandal gap |
0.7% |
1/148 |
Scapular winging |
0.7% |
1/148 |
Short femur |
0.7% |
1/148 |
Short distal phalanx of finger |
0.7% |
1/148 |
Short middle phalanx of finger |
0.7% |
1/148 |
Short toe |
0.7% |
1/148 |
Shoulder dislocation |
0.7% |
1/148 |
Talipes valgus |
0.7% |
1/148 |
Thoracic kyphosis |
0.7% |
1/148 |
Trigonocephaly |
0.7% |
1/148 |
Ulnar deviation of the wrist |
0.7% |
1/148 |
Widened distal phalanges |
0.7% |
1/148 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
79.1% |
121/153 |
Nevus |
11.1% |
17/153 |
Wide intermamillary distance |
7.2% |
11/153 |
Dry skin |
6.5% |
10/153 |
Fair hair |
6.5% |
10/153 |
Sacral dimple |
6.5% |
10/153 |
Dental malocclusion |
5.2% |
8/153 |
Hypopigmentation of the skin |
5.2% |
8/153 |
Thick hair |
5.2% |
8/153 |
Cafe-au-lait spot |
4.6% |
7/153 |
Fine hair |
4.6% |
7/153 |
Soft skin |
4.6% |
7/153 |
Abnormality of hair pigmentation |
3.9% |
6/153 |
Eczema |
3.9% |
6/153 |
Hypodontia |
3.9% |
6/153 |
Sparse hair |
3.3% |
5/153 |
Abnormality of the hair |
2.6% |
4/153 |
Abnormality of skin pigmentation |
2.6% |
4/153 |
Dry hair |
2.6% |
4/153 |
Hyperextensible skin |
2.6% |
4/153 |
Single transverse palmar crease |
2.6% |
4/153 |
Acne |
2.0% |
3/153 |
Brittle hair |
2.0% |
3/153 |
Coarse hair |
2.0% |
3/153 |
Curly hair |
2.0% |
3/153 |
Vitiligo |
2.0% |
3/153 |
Abnormality of the nipple |
1.3% |
2/153 |
Abnormality of hair texture |
1.3% |
2/153 |
Bilateral single transverse palmar creases |
1.3% |
2/153 |
Hyperkeratosis |
1.3% |
2/153 |
Hyperpigmentation of the skin |
1.3% |
2/153 |
Hyperpigmented nevi |
1.3% |
2/153 |
Ichthyosis |
1.3% |
2/153 |
Inverted nipples |
1.3% |
2/153 |
Low anterior hairline |
1.3% |
2/153 |
Multiple cafe-au-lait spots |
1.3% |
2/153 |
Numerous nevi |
1.3% |
2/153 |
Shoulder dimples |
1.3% |
2/153 |
Silver-gray hair |
1.3% |
2/153 |
Abnormally lax or hyperextensible skin |
0.7% |
1/153 |
Abnormality of the nail |
0.7% |
1/153 |
Abnormal elasticity of skin |
0.7% |
1/153 |
Abnormality of hair growth |
0.7% |
1/153 |
Alopecia |
0.7% |
1/153 |
Aplasia cutis congenita of scalp |
0.7% |
1/153 |
Aplasia cutis congenita over the scalp vertex |
0.7% |
1/153 |
Atrophic scars |
0.7% |
1/153 |
Atrophic, patchy alopecia |
0.7% |
1/153 |
Bifid nail |
0.7% |
1/153 |
Bruising susceptibility |
0.7% |
1/153 |
Cutis laxa |
0.7% |
1/153 |
Cyanosis |
0.7% |
1/153 |
Deep palmar crease |
0.7% |
1/153 |
Fragile nails |
0.7% |
1/153 |
Hyperkeratosis pilaris |
0.7% |
1/153 |
Hypohidrosis |
0.7% |
1/153 |
Hypopigmented skin patches |
0.7% |
1/153 |
Localized hirsutism |
0.7% |
1/153 |
Melanocytic nevus |
0.7% |
1/153 |
Milia |
0.7% |
1/153 |
Multiple palmar creases |
0.7% |
1/153 |
Nail dystrophy |
0.7% |
1/153 |
Skin dimples |
0.7% |
1/153 |
Soft, doughy skin |
0.7% |
1/153 |
Sparse anterior scalp hair |
0.7% |
1/153 |
Uncombable hair |
0.7% |
1/153 |
Webbed neck |
0.7% |
1/153 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
8.8% |
10/113 |
Growth hormone deficiency |
3.5% |
4/113 |
Gonadotropin deficiency |
0.9% |
1/113 |
Hyperthyroidism |
0.9% |
1/113 |
Hypothyroidism |
0.9% |
1/113 |
Precocious puberty |
0.9% |
1/113 |
Primary adrenal insufficiency |
0.9% |
1/113 |
Abnormality of the metabolic system |
7.2% |
8/111 |
Neonatal hypoglycemia |
1.8% |
2/111 |
Neonatal hyperbilirubinemia |
1.8% |
2/111 |
Abnormality of circulating enzyme level |
0.9% |
1/111 |
Anemia |
0.9% |
1/111 |
Decreased activity of mitochondrial complex I |
0.9% |
1/111 |
Hypoglycemia |
0.9% |
1/111 |
Abnormality of the immune system |
39.5% |
47/119 |
Recurrent otitis media |
5.9% |
7/119 |
Recurrent urinary tract infections |
4.2% |
5/119 |
Recurrent respiratory infections |
4.2% |
5/119 |
Asthma |
3.4% |
4/119 |
Recurrent upper respiratory tract infections |
3.4% |
4/119 |
Recurrent infections |
3.4% |
4/119 |
Neutropenia |
2.5% |
3/119 |
Recurrent pneumonia |
2.5% |
3/119 |
Recurrent infections of the middle ear |
2.5% |
3/119 |
Chronic otitis media |
1.7% |
2/119 |
Recurrent bronchitis |
1.7% |
2/119 |
Aspiration pneumonia |
0.8% |
1/119 |
Bronchitis |
0.8% |
1/119 |
Bruising susceptibility |
0.8% |
1/119 |
Celiac disease |
0.8% |
1/119 |
Easy fatigability |
0.8% |
1/119 |
Recurrent cystitis |
0.8% |
1/119 |
Sepsis |
0.8% |
1/119 |
Neoplasia |
|
|
Neoplasia |
8.9% |
10/112 |
Hemangioma |
2.7% |
3/112 |
Gait disturbance |
0.9% |
1/112 |
Gait ataxia |
0.9% |
1/112 |
Medulloblastoma |
0.9% |
1/112 |
Melanoma |
0.9% |
1/112 |
Testicular neoplasm |
0.9% |
1/112 |
Verrucae |
0.9% |
1/112 |