Gender |
|
|
Male |
50.9% |
54/106 |
Female |
48.1% |
51/106 |
Indifferent |
0% |
0/106 |
Unknown |
0.9% |
1/106 |
General |
|
|
Birth Length abnormalities |
2.9% |
3/104 |
< P3 : Birth length less than 3rd percentile |
2.9% |
3/104 |
Birth Weight abnormalities |
9.6% |
10/104 |
< P3 : Small for gestational age |
9.6% |
10/104 |
Birth Head circumference abnormalities |
4.9% |
5/103 |
> P98 : Macrocephaly at birth |
1.9% |
2/103 |
< P3 : Congenital microcephaly |
2.9% |
3/103 |
Current Height abnormalities |
25.2% |
26/103 |
< P3 : Short stature |
20.4% |
21/103 |
> P98 : Tall stature |
4.9% |
5/103 |
Current Weight abnormalities |
22.1% |
23/104 |
< P3 : Decreased body weight |
16.3% |
17/104 |
> P98 : Increased body weight |
5.8% |
6/104 |
Current Head circumference abnormalities |
26.0% |
27/104 |
> P98 : Macrocephaly |
14.4% |
15/104 |
< P3 : Microcephaly |
11.5% |
12/104 |
Neurology |
|
|
Neurological abnormalities |
73.8% |
59/80 |
Generalized hypotonia |
27.5% |
22/80 |
Seizures |
17.5% |
14/80 |
EEG abnormality |
8.8% |
7/80 |
Febrile seizures |
6.3% |
5/80 |
Gait disturbance |
6.3% |
5/80 |
Absence seizures |
5.0% |
4/80 |
Central hypotonia |
5.0% |
4/80 |
Generalized tonic-clonic seizures |
5.0% |
4/80 |
Focal seizures with impairment of consciousness or awareness |
3.8% |
3/80 |
Gait ataxia |
3.8% |
3/80 |
Generalized tonic seizures |
2.5% |
2/80 |
Neonatal hypotonia |
2.5% |
2/80 |
Abnormal nerve conduction velocity |
1.3% |
1/80 |
Abnormality of pelvic girdle bone morphology |
1.3% |
1/80 |
Aganglionic megacolon |
1.3% |
1/80 |
Arnold-Chiari malformation |
1.3% |
1/80 |
Atypical absence seizures |
1.3% |
1/80 |
Bilateral convulsive seizures |
1.3% |
1/80 |
Delayed speech and language development |
1.3% |
1/80 |
Epileptic encephalopathy |
1.3% |
1/80 |
Focal seizures |
1.3% |
1/80 |
Focal seizures without impairment of consciousness or awareness |
1.3% |
1/80 |
Generalized seizures |
1.3% |
1/80 |
Generalized myoclonic seizures |
1.3% |
1/80 |
Generalized neonatal hypotonia |
1.3% |
1/80 |
Global developmental delay |
1.3% |
1/80 |
Hyperreflexia |
1.3% |
1/80 |
Hypertonia |
1.3% |
1/80 |
Kyphoscoliosis |
1.3% |
1/80 |
Lower limb asymmetry |
1.3% |
1/80 |
Motor delay |
1.3% |
1/80 |
Muscular hypotonia |
1.3% |
1/80 |
Neurodevelopmental delay |
1.3% |
1/80 |
Postural instability |
1.3% |
1/80 |
Progressive neurologic deterioration |
1.3% |
1/80 |
Stroke |
1.3% |
1/80 |
Behavioral problems |
65.8% |
50/76 |
Autistic behavior |
22.4% |
17/76 |
Attention deficit hyperactivity disorder |
17.1% |
13/76 |
Short attention span |
17.1% |
13/76 |
Autism |
13.2% |
10/76 |
Hyperactivity |
10.5% |
8/76 |
Aggressive behavior |
7.9% |
6/76 |
Behavioral abnormality |
6.6% |
5/76 |
Pain insensitivity |
6.6% |
5/76 |
Abnormal fear/anxiety-related behavior |
3.9% |
3/76 |
Anxiety |
3.9% |
3/76 |
Impaired social interactions |
3.9% |
3/76 |
Impulsivity |
3.9% |
3/76 |
Self-mutilation |
3.9% |
3/76 |
Stereotypic behavior |
3.9% |
3/76 |
Repetitive compulsive behavior |
2.6% |
2/76 |
Sleep disturbance |
2.6% |
2/76 |
Abnormal aggressive, impulsive or violent behavior |
1.3% |
1/76 |
Emotional lability |
1.3% |
1/76 |
Feeding difficulties in infancy |
1.3% |
1/76 |
Impaired ability to form peer relationships |
1.3% |
1/76 |
Mutism |
1.3% |
1/76 |
Obsessive-compulsive behavior |
1.3% |
1/76 |
Obsessive-compulsive trait |
1.3% |
1/76 |
Phonophobia |
1.3% |
1/76 |
Poor coordination |
1.3% |
1/76 |
Restlessness |
1.3% |
1/76 |
Restrictive behavior |
1.3% |
1/76 |
Self-injurious behavior |
1.3% |
1/76 |
Brain abnormality |
79.3% |
65/82 |
Agenesis of corpus callosum |
26.8% |
22/82 |
Ventriculomegaly |
11.0% |
9/82 |
Dandy-Walker malformation |
9.8% |
8/82 |
Hypoplasia of the corpus callosum |
9.8% |
8/82 |
Delayed myelination |
7.3% |
6/82 |
Cerebellar vermis hypoplasia |
6.1% |
5/82 |
Enlarged cisterna magna |
6.1% |
5/82 |
Hydrocephalus |
6.1% |
5/82 |
Abnormality of the corpus callosum |
4.9% |
4/82 |
Aplasia/Hypoplasia of the cerebellum |
4.9% |
4/82 |
Partial agenesis of the corpus callosum |
4.9% |
4/82 |
Cerebral atrophy |
3.7% |
3/82 |
Cerebellar hypoplasia |
3.7% |
3/82 |
Colpocephaly |
3.7% |
3/82 |
Dysplastic corpus callosum |
3.7% |
3/82 |
Heterotopia |
3.7% |
3/82 |
Abnormality of the cerebellum |
2.4% |
2/82 |
Abnormality of the cerebral cortex |
2.4% |
2/82 |
Arnold-Chiari malformation |
2.4% |
2/82 |
Intracranial cystic lesion |
2.4% |
2/82 |
Mild fetal ventriculomegaly |
2.4% |
2/82 |
Perivascular spaces |
2.4% |
2/82 |
Posterior fossa cyst |
2.4% |
2/82 |
Widened subarachnoid space |
2.4% |
2/82 |
Abnormality of the cerebellar vermis |
1.2% |
1/82 |
Abnormality of the pituitary gland |
1.2% |
1/82 |
Abnormal cortical gyration |
1.2% |
1/82 |
Abnormality of lateral ventricle |
1.2% |
1/82 |
Abnormality of the fourth ventricle |
1.2% |
1/82 |
Abnormality of the dentate nucleus |
1.2% |
1/82 |
Abnormality of the choroid plexus |
1.2% |
1/82 |
Abnormality of brainstem morphology |
1.2% |
1/82 |
Abnormal length of corpus callosum |
1.2% |
1/82 |
Abnormality of the cerebrum |
1.2% |
1/82 |
Absent septum pellucidum |
1.2% |
1/82 |
Agenesis of the anterior commissure |
1.2% |
1/82 |
Anterior pituitary hypoplasia |
1.2% |
1/82 |
Aplasia/Hypoplasia of the corpus callosum |
1.2% |
1/82 |
Aplasia/Hypoplasia of the cerebellar vermis |
1.2% |
1/82 |
Arachnoid cyst |
1.2% |
1/82 |
Atrophy/Degeneration affecting the cerebrum |
1.2% |
1/82 |
Brachycephaly |
1.2% |
1/82 |
Cerebral hamartomata |
1.2% |
1/82 |
Cerebral hypomyelination |
1.2% |
1/82 |
Cerebral hemorrhage |
1.2% |
1/82 |
Cerebral hypoplasia |
1.2% |
1/82 |
Cortical dysplasia |
1.2% |
1/82 |
Dilated third ventricle |
1.2% |
1/82 |
Ectopic posterior pituitary |
1.2% |
1/82 |
Epidural hemorrhage |
1.2% |
1/82 |
Gray matter heterotopias |
1.2% |
1/82 |
Holoprosencephaly |
1.2% |
1/82 |
Hyperostosis frontalis interna |
1.2% |
1/82 |
Hypoplasia of the frontal lobes |
1.2% |
1/82 |
Hypothalamic hamartoma |
1.2% |
1/82 |
Limbic malformations |
1.2% |
1/82 |
Microcephaly |
1.2% |
1/82 |
Morphological abnormality of the central nervous system |
1.2% |
1/82 |
Periventricular gray matter heterotopia |
1.2% |
1/82 |
Periventricular leukomalacia |
1.2% |
1/82 |
Polyhydramnios |
1.2% |
1/82 |
Severely dysplastic cerebellum |
1.2% |
1/82 |
Villous hypertrophy of choroid plexus |
1.2% |
1/82 |
Facial abnormalities |
|
|
Abnormality of the ear |
65.9% |
56/85 |
Low-set ears |
21.2% |
18/85 |
Abnormality of the pinna |
14.1% |
12/85 |
Microtia |
8.2% |
7/85 |
Posteriorly rotated ears |
8.2% |
7/85 |
Low-set, posteriorly rotated ears |
7.1% |
6/85 |
Microtia, third degree |
3.5% |
3/85 |
Preauricular pit |
3.5% |
3/85 |
Protruding ear |
3.5% |
3/85 |
Abnormality of the helix |
2.4% |
2/85 |
Anteverted ears |
2.4% |
2/85 |
Cupped ear |
2.4% |
2/85 |
Forward facing earlobe |
2.4% |
2/85 |
Macrotia |
2.4% |
2/85 |
Periauricular skin pits |
2.4% |
2/85 |
Preauricular skin tag |
2.4% |
2/85 |
Small earlobe |
2.4% |
2/85 |
Abnormality of earlobe |
1.2% |
1/85 |
Abnormality of the auditory canal |
1.2% |
1/85 |
Abnormal location of ears |
1.2% |
1/85 |
Anterior creases of earlobe |
1.2% |
1/85 |
Aplasia/Hypoplasia of the tragus |
1.2% |
1/85 |
Aplasia/Hypoplasia of the earlobes |
1.2% |
1/85 |
Auricular pit |
1.2% |
1/85 |
Cleft earlobe |
1.2% |
1/85 |
Coarse facial features |
1.2% |
1/85 |
External ear malformation |
1.2% |
1/85 |
Frontal bossing |
1.2% |
1/85 |
Large earlobe |
1.2% |
1/85 |
Low posterior hairline |
1.2% |
1/85 |
Pointed helix |
1.2% |
1/85 |
Prominent antihelix |
1.2% |
1/85 |
Sparse body hair |
1.2% |
1/85 |
Telecanthus |
1.2% |
1/85 |
Uplifted earlobe |
1.2% |
1/85 |
Abnormality of the eye |
85.4% |
76/89 |
Long eyelashes |
33.7% |
30/89 |
Thick eyebrow |
32.6% |
29/89 |
Hypertelorism |
30.3% |
27/89 |
Ptosis |
15.7% |
14/89 |
Downslanted palpebral fissures |
10.1% |
9/89 |
Upslanted palpebral fissure |
9.0% |
8/89 |
Deeply set eye |
6.7% |
6/89 |
Highly arched eyebrow |
6.7% |
6/89 |
Sparse eyebrow |
6.7% |
6/89 |
Long palpebral fissure |
3.4% |
3/89 |
Strabismus |
3.4% |
3/89 |
Synophrys |
3.4% |
3/89 |
Blepharophimosis |
2.2% |
2/89 |
Epicanthus |
2.2% |
2/89 |
Small palpebral fissure |
2.2% |
2/89 |
Sparse lateral eyebrow |
2.2% |
2/89 |
Abnormality of the lacrimal duct |
1.1% |
1/89 |
Abnormality of the palpebral fissures |
1.1% |
1/89 |
Abnormal size of the palpebral fissures |
1.1% |
1/89 |
Abnormality of the philtrum |
1.1% |
1/89 |
Abnormality of the eyelid |
1.1% |
1/89 |
Abnormality of the periorbital region |
1.1% |
1/89 |
Anterior segment dysgenesis |
1.1% |
1/89 |
Anterior uveitis |
1.1% |
1/89 |
Aplasia/Hypoplasia of the eyebrow |
1.1% |
1/89 |
Bilateral ptosis |
1.1% |
1/89 |
Coloboma |
1.1% |
1/89 |
Epibulbar dermoid |
1.1% |
1/89 |
Exotropia |
1.1% |
1/89 |
Hyperopic astigmatism |
1.1% |
1/89 |
Iris atrophy |
1.1% |
1/89 |
Long philtrum |
1.1% |
1/89 |
Microphthalmia |
1.1% |
1/89 |
Optic nerve coloboma |
1.1% |
1/89 |
Palpebral fissure narrowing on adduction |
1.1% |
1/89 |
Periorbital fullness |
1.1% |
1/89 |
Retinal dysplasia |
1.1% |
1/89 |
Short palpebral fissure |
1.1% |
1/89 |
Sparse eyelashes |
1.1% |
1/89 |
Sparse or absent eyelashes |
1.1% |
1/89 |
Unilateral ptosis |
1.1% |
1/89 |
Unilateral strabismus |
1.1% |
1/89 |
Abnormality of the nose |
79.3% |
69/87 |
Wide nasal bridge |
25.3% |
22/87 |
Thick nasal alae |
23.0% |
20/87 |
Anteverted nares |
20.7% |
18/87 |
Broad nasal tip |
20.7% |
18/87 |
Depressed nasal bridge |
20.7% |
18/87 |
Wide nose |
17.2% |
15/87 |
Short nose |
16.1% |
14/87 |
Long philtrum |
14.9% |
13/87 |
Bulbous nose |
10.3% |
9/87 |
Short philtrum |
10.3% |
9/87 |
Broad philtrum |
6.9% |
6/87 |
Prominent nasal bridge |
5.7% |
5/87 |
Low hanging columella |
4.6% |
4/87 |
Smooth philtrum |
3.4% |
3/87 |
Abnormality of the nasal alae |
2.3% |
2/87 |
Abnormality of the nasal tip |
2.3% |
2/87 |
Epicanthus |
2.3% |
2/87 |
Long nose |
2.3% |
2/87 |
Wide nasal base |
2.3% |
2/87 |
Absent nasal bridge |
1.1% |
1/87 |
Choanal stenosis |
1.1% |
1/87 |
Cleft palate |
1.1% |
1/87 |
Depressed nasal tip |
1.1% |
1/87 |
Narrow nasal bridge |
1.1% |
1/87 |
Abnormality of the mouth |
84.3% |
75/89 |
Thick lower lip vermilion |
47.2% |
42/89 |
Wide mouth |
36.0% |
32/89 |
Thick upper lip vermilion |
29.2% |
26/89 |
High palate |
16.9% |
15/89 |
Thin upper lip vermilion |
12.4% |
11/89 |
Retrognathia |
11.2% |
10/89 |
Everted lower lip vermilion |
9.0% |
8/89 |
Micrognathia |
6.7% |
6/89 |
Coarse facial features |
4.5% |
4/89 |
Long philtrum |
4.5% |
4/89 |
Macroglossia |
4.5% |
4/89 |
Absent speech |
3.4% |
3/89 |
Cleft palate |
3.4% |
3/89 |
Thin lower lip vermilion |
3.4% |
3/89 |
Downturned corners of mouth |
2.2% |
2/89 |
Everted upper lip vermilion |
2.2% |
2/89 |
Nasogastric tube feeding in infancy |
2.2% |
2/89 |
Abnormality of upper lip |
1.1% |
1/89 |
Abnormality of lower lip |
1.1% |
1/89 |
Abnormal lung lobation |
1.1% |
1/89 |
Ankyloglossia |
1.1% |
1/89 |
Broad philtrum |
1.1% |
1/89 |
Delayed eruption of teeth |
1.1% |
1/89 |
Dental malocclusion |
1.1% |
1/89 |
Feeding difficulties in infancy |
1.1% |
1/89 |
Feeding difficulties |
1.1% |
1/89 |
Gastrostomy tube feeding in infancy |
1.1% |
1/89 |
Hypomimic face |
1.1% |
1/89 |
Hypoplasia of the maxilla |
1.1% |
1/89 |
Long face |
1.1% |
1/89 |
Microretrognathia |
1.1% |
1/89 |
Misalignment of teeth |
1.1% |
1/89 |
Narrow palate |
1.1% |
1/89 |
Open mouth |
1.1% |
1/89 |
Pierre-Robin sequence |
1.1% |
1/89 |
Poor suck |
1.1% |
1/89 |
Premature loss of teeth |
1.1% |
1/89 |
Protruding tongue |
1.1% |
1/89 |
Short lingual frenulum |
1.1% |
1/89 |
Short chin |
1.1% |
1/89 |
Short philtrum |
1.1% |
1/89 |
Smooth philtrum |
1.1% |
1/89 |
Thick vermilion border |
1.1% |
1/89 |
Visual and hearing impairments |
|
|
Abnormal hearing |
45.2% |
33/73 |
Glue ear |
13.7% |
10/73 |
Conductive hearing impairment |
11.0% |
8/73 |
Hearing impairment |
8.2% |
6/73 |
Stenosis of the external auditory canal |
5.5% |
4/73 |
Abnormality of the auditory canal |
4.1% |
3/73 |
Mild hearing impairment |
4.1% |
3/73 |
Atresia of the external auditory canal |
2.7% |
2/73 |
Cholesteatoma |
2.7% |
2/73 |
Morphological abnormality of the middle ear |
2.7% |
2/73 |
Narrow internal auditory canal |
2.7% |
2/73 |
Sensorineural hearing impairment |
2.7% |
2/73 |
Unilateral deafness |
2.7% |
2/73 |
Abnormality of the middle ear |
1.4% |
1/73 |
Aplasia/Hypoplasia of the middle ear |
1.4% |
1/73 |
Bilateral sensorineural hearing impairment |
1.4% |
1/73 |
Childhood onset sensorineural hearing impairment |
1.4% |
1/73 |
Chronic otitis media |
1.4% |
1/73 |
Excessive cerumen |
1.4% |
1/73 |
Functional abnormality of the middle ear |
1.4% |
1/73 |
Mid-frequency hearing loss |
1.4% |
1/73 |
Mild conductive hearing impairment |
1.4% |
1/73 |
Moderate sensorineural hearing impairment |
1.4% |
1/73 |
Morphological abnormality of the inner ear |
1.4% |
1/73 |
Recurrent otitis media |
1.4% |
1/73 |
Unilateral conductive hearing impairment |
1.4% |
1/73 |
Abnormal vision |
66.2% |
51/77 |
Strabismus |
24.7% |
19/77 |
Myopia |
15.6% |
12/77 |
Esotropia |
10.4% |
8/77 |
Hypermetropia |
9.1% |
7/77 |
Astigmatism |
7.8% |
6/77 |
Amblyopia |
5.2% |
4/77 |
Cortical visual impairment |
3.9% |
3/77 |
Exotropia |
3.9% |
3/77 |
Nystagmus |
3.9% |
3/77 |
Severe Myopia |
3.9% |
3/77 |
Visual impairment |
3.9% |
3/77 |
High-grade hypermetropia |
2.6% |
2/77 |
Hyperopic astigmatism |
2.6% |
2/77 |
Retinopathy |
2.6% |
2/77 |
Abnormality of the macula |
1.3% |
1/77 |
Abnormality of vision |
1.3% |
1/77 |
Abnormality of the choroid |
1.3% |
1/77 |
Abnormality of the eye |
1.3% |
1/77 |
Anterior segment dysgenesis |
1.3% |
1/77 |
Cataract |
1.3% |
1/77 |
Coloboma |
1.3% |
1/77 |
Congenital horizontal nystagmus |
1.3% |
1/77 |
Glaucoma |
1.3% |
1/77 |
Optic nerve hypoplasia |
1.3% |
1/77 |
Optic nerve coloboma |
1.3% |
1/77 |
Retinal dysplasia |
1.3% |
1/77 |
Self-mutilation |
1.3% |
1/77 |
Unilateral strabismus |
1.3% |
1/77 |
Heart |
|
|
Abnormality of the heart |
46.7% |
43/92 |
Ventricular septal defect |
10.9% |
10/92 |
Patent ductus arteriosus |
7.6% |
7/92 |
Atria septal defect |
6.5% |
6/92 |
Patent foramen ovale |
6.5% |
6/92 |
Coarctation of aorta |
5.4% |
5/92 |
Persistent left superior vena cava |
5.4% |
5/92 |
Secundum atrial septal defect |
5.4% |
5/92 |
Abnormality of the mitral valve |
3.3% |
3/92 |
Abnormality of the vena cava |
3.3% |
3/92 |
Abnormality of the atrial septum |
3.3% |
3/92 |
Abnormal heart morphology |
3.3% |
3/92 |
Hypoplastic aortic arch |
3.3% |
3/92 |
Perimembranous ventricular septal defect |
3.3% |
3/92 |
Right ventricular dilatation |
3.3% |
3/92 |
Abnormality of the aorta |
2.2% |
2/92 |
Abnormality of the right ventricle |
2.2% |
2/92 |
Atrial flutter |
2.2% |
2/92 |
Bicuspid aortic valve |
2.2% |
2/92 |
Double outlet right ventricle |
2.2% |
2/92 |
Hypoplastic left heart |
2.2% |
2/92 |
Pulmonary hypertension |
2.2% |
2/92 |
Abnormality of the ventricular septum |
1.1% |
1/92 |
Abnormality of the aortic arch |
1.1% |
1/92 |
Abnormal ventriculo-arterial connection |
1.1% |
1/92 |
Anomalous muscle bundle of the right ventricle |
1.1% |
1/92 |
Aortic valve stenosis |
1.1% |
1/92 |
Aortic root dilatation |
1.1% |
1/92 |
Aortic dilatation |
1.1% |
1/92 |
Atrioventricular block |
1.1% |
1/92 |
Bilateral superior vena cava with bridging vein |
1.1% |
1/92 |
Cardiogenic shock |
1.1% |
1/92 |
Complete atrioventricular canal defect |
1.1% |
1/92 |
Congenital malformation of the right heart |
1.1% |
1/92 |
Dextrocardia |
1.1% |
1/92 |
Hypertrophic cardiomyopathy |
1.1% |
1/92 |
Imperforate atrioventricular valve |
1.1% |
1/92 |
Left-to-right shunt |
1.1% |
1/92 |
Left superior vena cava draining to coronary sinus |
1.1% |
1/92 |
Mitral valve prolapse |
1.1% |
1/92 |
Partial anomalous pulmonary venous return |
1.1% |
1/92 |
Partial atrioventricular canal defect |
1.1% |
1/92 |
Patent ductus arteriosus after birth at term |
1.1% |
1/92 |
Pericardial effusion |
1.1% |
1/92 |
Postductal coarctation of the aorta |
1.1% |
1/92 |
Primary atrial arrhythmia |
1.1% |
1/92 |
Pulmonary valve defects |
1.1% |
1/92 |
Right atrial enlargement |
1.1% |
1/92 |
Right ventricular hypertrophy |
1.1% |
1/92 |
Tetralogy of Fallot |
1.1% |
1/92 |
Transposition of the great arteries |
1.1% |
1/92 |
Vascular ring |
1.1% |
1/92 |
Ventricular preexcitation |
1.1% |
1/92 |
Wolff-Parkinson-White syndrome |
1.1% |
1/92 |
Pulmonary |
|
|
Abnormality of the lungs |
51.0% |
25/49 |
Neonatal respiratory distress |
26.5% |
13/49 |
Recurrent respiratory infections |
14.3% |
7/49 |
Laryngomalacia |
10.2% |
5/49 |
Pulmonary hypertension |
6.1% |
3/49 |
Asthma |
4.1% |
2/49 |
Abnormality of the vocal cords |
2.0% |
1/49 |
Allergic rhinitis |
2.0% |
1/49 |
Chronic lung disease |
2.0% |
1/49 |
Recurrent upper respiratory tract infections |
2.0% |
1/49 |
Respiratory failure |
2.0% |
1/49 |
Respiratory insufficiency |
2.0% |
1/49 |
Respiratory distress |
2.0% |
1/49 |
Spontaneous neonatal pneumothorax |
2.0% |
1/49 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
71.9% |
64/89 |
Feeding difficulties in infancy |
21.3% |
19/89 |
Gastroesophageal reflux |
16.9% |
15/89 |
Nasogastric tube feeding in infancy |
15.7% |
14/89 |
Feeding difficulties |
14.6% |
13/89 |
Gastrostomy tube feeding in infancy |
13.5% |
12/89 |
Constipation |
11.2% |
10/89 |
Failure to thrive in infancy |
6.7% |
6/89 |
Episodic vomiting |
5.6% |
5/89 |
Poor suck |
4.5% |
4/89 |
Anal atresia |
3.4% |
3/89 |
Chronic constipation |
3.4% |
3/89 |
Congenital diaphragmatic hernia |
3.4% |
3/89 |
Abdominal distention |
2.2% |
2/89 |
Fatigable weakness of swallowing muscles |
2.2% |
2/89 |
Abnormal eating behavior |
1.1% |
1/89 |
Absent gallbladder |
1.1% |
1/89 |
Aganglionic megacolon |
1.1% |
1/89 |
Agenesis of the diaphragm |
1.1% |
1/89 |
Anal stenosis |
1.1% |
1/89 |
Anorectal anomaly |
1.1% |
1/89 |
Anteriorly placed anus |
1.1% |
1/89 |
Congenital pyloric atresia |
1.1% |
1/89 |
Crohn's disease |
1.1% |
1/89 |
Elevated hepatic transaminases |
1.1% |
1/89 |
Functional abnormality of the gastrointestinal tract |
1.1% |
1/89 |
Gastritis |
1.1% |
1/89 |
Ileal atresia |
1.1% |
1/89 |
Inguinal hernia |
1.1% |
1/89 |
Intestinal obstruction |
1.1% |
1/89 |
Polysplenia |
1.1% |
1/89 |
Protuberant abdomen |
1.1% |
1/89 |
Pyloric stenosis |
1.1% |
1/89 |
Single umbilical artery |
1.1% |
1/89 |
Urethral fistula |
1.1% |
1/89 |
Urogenital |
|
|
Abnormality of the urogenital system |
37.8% |
34/90 |
Bilateral cryptorchidism |
4.4% |
4/90 |
Hydronephrosis |
3.3% |
3/90 |
Unilateral cryptorchidism |
3.3% |
3/90 |
Abnormality of the uterus |
2.2% |
2/90 |
Hypoplasia of the uterus |
2.2% |
2/90 |
Hypospadias |
2.2% |
2/90 |
Multiple renal cysts |
2.2% |
2/90 |
Renal hypoplasia |
2.2% |
2/90 |
Ureter duplex |
2.2% |
2/90 |
Abnormality of the mesentery |
1.1% |
1/90 |
Abnormality of the anus |
1.1% |
1/90 |
Abnormality of the kidney |
1.1% |
1/90 |
Abnormality of the renal pelvis |
1.1% |
1/90 |
Acute kidney injury |
1.1% |
1/90 |
Anal atresia |
1.1% |
1/90 |
Anteriorly placed anus |
1.1% |
1/90 |
Bifid ureter |
1.1% |
1/90 |
Congenital megaureter |
1.1% |
1/90 |
Dilatation of the renal pelvis |
1.1% |
1/90 |
Duplicated collecting system |
1.1% |
1/90 |
Ectopic kidney |
1.1% |
1/90 |
Horseshoe kidney |
1.1% |
1/90 |
Hyperplastic labia majora |
1.1% |
1/90 |
Hypoplastic labia majora |
1.1% |
1/90 |
Inguinal hernia |
1.1% |
1/90 |
Megacalicosis |
1.1% |
1/90 |
Multiple bladder diverticula |
1.1% |
1/90 |
Nephrolithiasis |
1.1% |
1/90 |
Paraphimosis |
1.1% |
1/90 |
Pelvic kidney |
1.1% |
1/90 |
Pyelonephritis |
1.1% |
1/90 |
Recurrent urinary tract infections |
1.1% |
1/90 |
Renal malrotation |
1.1% |
1/90 |
Unilateral renal dysplasia |
1.1% |
1/90 |
Unilateral renal agenesis |
1.1% |
1/90 |
Ureteral duplication |
1.1% |
1/90 |
Ureteropelvic junction obstruction |
1.1% |
1/90 |
Uterus didelphys |
1.1% |
1/90 |
Skeleton |
|
|
Skeletal abnormalities |
88.4% |
84/95 |
Joint laxity |
20.0% |
19/95 |
Pes planus |
20.0% |
19/95 |
Scoliosis |
18.9% |
18/95 |
Short 5th finger |
13.7% |
13/95 |
Clinodactyly of the 5th finger |
9.5% |
9/95 |
Short stature |
8.4% |
8/95 |
Short distal phalanx of the 5th finger |
7.4% |
7/95 |
Delayed eruption of teeth |
6.3% |
6/95 |
Delayed eruption of permanent teeth |
6.3% |
6/95 |
Dental crowding |
6.3% |
6/95 |
Sandal gap |
6.3% |
6/95 |
Broad thumb |
5.3% |
5/95 |
Widely spaced teeth |
5.3% |
5/95 |
Broad hallux |
4.2% |
4/95 |
Delayed eruption of primary teeth |
4.2% |
4/95 |
Irregular dentition |
4.2% |
4/95 |
Kyphoscoliosis |
4.2% |
4/95 |
Macrocephaly |
4.2% |
4/95 |
Short middle phalanx of the 5th finger |
4.2% |
4/95 |
Camptodactyly |
3.2% |
3/95 |
Clinodactyly |
3.2% |
3/95 |
Dental malocclusion |
3.2% |
3/95 |
Growth delay |
3.2% |
3/95 |
Muscle weakness |
3.2% |
3/95 |
Pectus excavatum |
3.2% |
3/95 |
Plagiocephaly |
3.2% |
3/95 |
Prominent interphalangeal joints |
3.2% |
3/95 |
Sacral dimple |
3.2% |
3/95 |
Short finger |
3.2% |
3/95 |
Abnormality of the lumbar spine |
2.1% |
2/95 |
Abnormality of the teeth |
2.1% |
2/95 |
Abnormality of the foot |
2.1% |
2/95 |
Abnormality of the ribs |
2.1% |
2/95 |
Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
2.1% |
2/95 |
Curved hallux phalanx |
2.1% |
2/95 |
Dolichocephaly |
2.1% |
2/95 |
Frontal bossing |
2.1% |
2/95 |
Genu valgum |
2.1% |
2/95 |
Genu recurvatum |
2.1% |
2/95 |
Hallux valgus |
2.1% |
2/95 |
Hip dysplasia |
2.1% |
2/95 |
Hyperlordosis |
2.1% |
2/95 |
Long hallux |
2.1% |
2/95 |
Long fingers |
2.1% |
2/95 |
Misalignment of teeth |
2.1% |
2/95 |
Short distal phalanx of finger |
2.1% |
2/95 |
Short distal phalanx of the 5th toe |
2.1% |
2/95 |
Short 5th toe |
2.1% |
2/95 |
Supernumerary ribs |
2.1% |
2/95 |
Talipes equinovarus |
2.1% |
2/95 |
Abnormal vertebral segmentation and fusion |
1.1% |
1/95 |
Abnormality of the 3rd finger |
1.1% |
1/95 |
Abnormality of the 4th toe |
1.1% |
1/95 |
Abnormality of mandibular ramus |
1.1% |
1/95 |
Abnormality of the skeletal system |
1.1% |
1/95 |
Abnormality of the sternum |
1.1% |
1/95 |
Abnormality of the 5th finger |
1.1% |
1/95 |
Abnormality of the thoracic spine |
1.1% |
1/95 |
Abnormality of digit |
1.1% |
1/95 |
Abnormality of the cervical spine |
1.1% |
1/95 |
Abnormality of the thumb |
1.1% |
1/95 |
Abnormality of multiple cell lineages in the bone marrow |
1.1% |
1/95 |
Abnormality of the femur |
1.1% |
1/95 |
Abnormality of cranial sutures |
1.1% |
1/95 |
Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
1.1% |
1/95 |
Aplastic anemia |
1.1% |
1/95 |
Aplasia of the distal phalanx of the 5th toe |
1.1% |
1/95 |
Aplasia of the distal phalanx of the 5th finger |
1.1% |
1/95 |
Aplasia/Hypoplasia of the mandible |
1.1% |
1/95 |
Aplasia/Hypoplasia of the middle phalanx of the 5th toe |
1.1% |
1/95 |
Bilateral camptodactyly |
1.1% |
1/95 |
Bilateral choanal atresia |
1.1% |
1/95 |
Brachycephaly |
1.1% |
1/95 |
Brachytelomesophalangy |
1.1% |
1/95 |
Broad distal phalanx of the toes |
1.1% |
1/95 |
Broad distal hallux |
1.1% |
1/95 |
Broad distal phalanx of finger |
1.1% |
1/95 |
Broad distal phalanx of the thumb |
1.1% |
1/95 |
Broad toe |
1.1% |
1/95 |
Broad 1st metacarpal |
1.1% |
1/95 |
Bruxism |
1.1% |
1/95 |
Butterfly vertebrae |
1.1% |
1/95 |
Calf muscle hypoplasia |
1.1% |
1/95 |
Cervical vertebral fusion (C2/C3) |
1.1% |
1/95 |
Clinodactyly of the 4th toe |
1.1% |
1/95 |
Clinodactyly of the 3rd toe |
1.1% |
1/95 |
Clinodactyly of the 2nd toe |
1.1% |
1/95 |
Compensatory scoliosis |
1.1% |
1/95 |
Coronal craniosynostosis |
1.1% |
1/95 |
Craniosynostosis |
1.1% |
1/95 |
Curved phalanges of the 5th finger |
1.1% |
1/95 |
Delayed skeletal maturation |
1.1% |
1/95 |
Deviation of the 5th toe |
1.1% |
1/95 |
Dysharmonic bone age |
1.1% |
1/95 |
Dysplastic sacrum |
1.1% |
1/95 |
Dystonia |
1.1% |
1/95 |
Enlarged interphalangeal joints |
1.1% |
1/95 |
Equinus calcaneus |
1.1% |
1/95 |
Failure to thrive in infancy |
1.1% |
1/95 |
Fetal fifth finger clinodactyly |
1.1% |
1/95 |
Finger clinodactyly |
1.1% |
1/95 |
Hand polydactyly |
1.1% |
1/95 |
High palate |
1.1% |
1/95 |
Hypertrichosis |
1.1% |
1/95 |
Kyphosis |
1.1% |
1/95 |
Limb dysmetria |
1.1% |
1/95 |
Lower limb amyotrophy |
1.1% |
1/95 |
Lumbar kyphoscoliosis |
1.1% |
1/95 |
Lumbar hyperlordosis |
1.1% |
1/95 |
Medial deviation of the foot |
1.1% |
1/95 |
Metopic synostosis |
1.1% |
1/95 |
Microcephaly |
1.1% |
1/95 |
Multiple joint contractures |
1.1% |
1/95 |
Narrow forehead |
1.1% |
1/95 |
Narrow foot |
1.1% |
1/95 |
Narrow internal auditory canal |
1.1% |
1/95 |
Oligodontia |
1.1% |
1/95 |
Pain insensitivity |
1.1% |
1/95 |
Patellar dislocation |
1.1% |
1/95 |
Pectus excavatum of inferior sternum |
1.1% |
1/95 |
Pes cavus |
1.1% |
1/95 |
Pierre-Robin sequence |
1.1% |
1/95 |
Polyarticular arthritis |
1.1% |
1/95 |
Proximal placement of thumb |
1.1% |
1/95 |
Recurrent patellar dislocation |
1.1% |
1/95 |
Rocker bottom foot |
1.1% |
1/95 |
Scapular winging |
1.1% |
1/95 |
Short 2nd toe |
1.1% |
1/95 |
Short toe |
1.1% |
1/95 |
Short middle phalanx of finger |
1.1% |
1/95 |
Short 4th toe |
1.1% |
1/95 |
Short thumb |
1.1% |
1/95 |
Shortening of all distal phalanges of the fingers |
1.1% |
1/95 |
Short metatarsal |
1.1% |
1/95 |
Short femur |
1.1% |
1/95 |
Short middle phalanx of the 5th toe |
1.1% |
1/95 |
Short neck |
1.1% |
1/95 |
Short 4th finger |
1.1% |
1/95 |
Short fourth metatarsal |
1.1% |
1/95 |
Short metacarpal |
1.1% |
1/95 |
Spondylolysis |
1.1% |
1/95 |
Supernumerary vertebrae |
1.1% |
1/95 |
Talipes calcaneovalgus |
1.1% |
1/95 |
Talipes |
1.1% |
1/95 |
Tapered finger |
1.1% |
1/95 |
Thoracic hemivertebrae |
1.1% |
1/95 |
Thoracolumbar kyphoscoliosis |
1.1% |
1/95 |
Toe clinodactyly |
1.1% |
1/95 |
Trigonocephaly |
1.1% |
1/95 |
Wide intermamillary distance |
1.1% |
1/95 |
4-5 finger syndactyly |
1.1% |
1/95 |
2-3 finger syndactyly |
1.1% |
1/95 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
74.2% |
66/89 |
Hypertrichosis |
13.5% |
12/89 |
Hypoplastic fifth toenail |
11.2% |
10/89 |
Thick hair |
10.1% |
9/89 |
Low anterior hairline |
9.0% |
8/89 |
Prominent fingertip pads |
9.0% |
8/89 |
Small nail |
9.0% |
8/89 |
Sparse scalp hair |
9.0% |
8/89 |
Hypoplastic fifth fingernail |
6.7% |
6/89 |
Aplasia/Hypoplasia of the nails |
4.5% |
4/89 |
Facial hypertrichosis |
4.5% |
4/89 |
Hypoplastic toenails |
4.5% |
4/89 |
Coarse hair |
3.4% |
3/89 |
Fingernail dysplasia |
3.4% |
3/89 |
Hypoplastic fingernail |
3.4% |
3/89 |
Striae distensae |
3.4% |
3/89 |
Abnormality of the nail |
2.2% |
2/89 |
Absent fifth fingernail |
2.2% |
2/89 |
Atypical scarring of skin |
2.2% |
2/89 |
Dry skin |
2.2% |
2/89 |
Fine hair |
2.2% |
2/89 |
Generalized hypertrichosis |
2.2% |
2/89 |
Hyperpigmentation of the skin |
2.2% |
2/89 |
Hypopigmentation of the skin |
2.2% |
2/89 |
Psoriasis |
2.2% |
2/89 |
Abnormality of the scalp hair |
1.1% |
1/89 |
Abnormality of hair growth rate |
1.1% |
1/89 |
Abnormal hair whorl |
1.1% |
1/89 |
Abnormality of the fingernails |
1.1% |
1/89 |
Abnormal hair quantity |
1.1% |
1/89 |
Abnormality of the distal phalanges of the toes |
1.1% |
1/89 |
Absent fifth toenail |
1.1% |
1/89 |
Absent toenail |
1.1% |
1/89 |
Absent fingernail |
1.1% |
1/89 |
Atopic dermatitis |
1.1% |
1/89 |
Cafe-au-lait spot |
1.1% |
1/89 |
Deep-set nails |
1.1% |
1/89 |
Dystrophic toenail |
1.1% |
1/89 |
Eczema |
1.1% |
1/89 |
Elbow hypertrichosis |
1.1% |
1/89 |
Erythroderma |
1.1% |
1/89 |
Extension of hair growth on temples to lateral eyebrow |
1.1% |
1/89 |
Frontal bossing |
1.1% |
1/89 |
Growth delay |
1.1% |
1/89 |
Hallux valgus |
1.1% |
1/89 |
Hemangioma |
1.1% |
1/89 |
Keloids |
1.1% |
1/89 |
Low posterior hairline |
1.1% |
1/89 |
Lumbar hypertrichosis |
1.1% |
1/89 |
Lumbosacral hirsutism |
1.1% |
1/89 |
Osteopenia |
1.1% |
1/89 |
Overlapping fingers |
1.1% |
1/89 |
Polyarticular arthritis |
1.1% |
1/89 |
Retrognathia |
1.1% |
1/89 |
Sacral dimple |
1.1% |
1/89 |
Scoliosis |
1.1% |
1/89 |
Short nail |
1.1% |
1/89 |
Short neck |
1.1% |
1/89 |
Single transverse palmar crease |
1.1% |
1/89 |
Slow-growing nails |
1.1% |
1/89 |
Slow-growing scalp hair |
1.1% |
1/89 |
Sparse anterior scalp hair |
1.1% |
1/89 |
Sparse hair |
1.1% |
1/89 |
Spatulate thumbs |
1.1% |
1/89 |
Synophrys |
1.1% |
1/89 |
Thick nail |
1.1% |
1/89 |
Thin fingernail |
1.1% |
1/89 |
Thin nail |
1.1% |
1/89 |
Vascular skin abnormality |
1.1% |
1/89 |
Webbed neck |
1.1% |
1/89 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
16.9% |
12/71 |
Delayed puberty |
5.6% |
4/71 |
Hashimoto thyroiditis |
2.8% |
2/71 |
Premature ovarian failure |
2.8% |
2/71 |
Abnormality of thyroid physiology |
1.4% |
1/71 |
Central hypothyroidism |
1.4% |
1/71 |
Compensated hypothyroidism |
1.4% |
1/71 |
Growth hormone deficiency |
1.4% |
1/71 |
Hypothyroidism |
1.4% |
1/71 |
Type II diabetes mellitus |
1.4% |
1/71 |
Abnormality of the metabolic system |
2.6% |
2/77 |
Abnormal levels of alpha-fetoprotein |
1.3% |
1/77 |
Hypothyroidism |
1.3% |
1/77 |
Abnormality of the immune system |
17.7% |
14/79 |
Recurrent infections |
5.1% |
4/79 |
Recurrent respiratory infections |
5.1% |
4/79 |
Abnormal bleeding |
1.3% |
1/79 |
Allergy |
1.3% |
1/79 |
Allergic rhinitis |
1.3% |
1/79 |
Aplastic anemia |
1.3% |
1/79 |
IgA deficiency |
1.3% |
1/79 |
IgM deficiency |
1.3% |
1/79 |
Immunoglobulin IgG2 deficiency |
1.3% |
1/79 |
Nasogastric tube feeding in infancy |
1.3% |
1/79 |
Neonatal asphyxia |
1.3% |
1/79 |
Partial IgA deficiency |
1.3% |
1/79 |
Platelet antibody positive |
1.3% |
1/79 |
Recurrent otitis media |
1.3% |
1/79 |
Recurrent bacterial infections |
1.3% |
1/79 |
Recurrent infections of the middle ear |
1.3% |
1/79 |
Respiratory infections in early life |
1.3% |
1/79 |
Thrombocytopenia |
1.3% |
1/79 |
Neoplasia |
|
|
Neoplasia |
5.0% |
5/101 |
Hepatoblastoma |
2.0% |
2/101 |
Acute lymphoblastic leukemia |
1.0% |
1/101 |
Cholesteatoma |
1.0% |
1/101 |
Neuroblastoma |
1.0% |
1/101 |