| Gender |
|
|
| Male |
50.9% |
55/108 |
| Female |
49.1% |
53/108 |
| General |
|
|
| Birth Length abnormalities |
2.8% |
3/106 |
| < P3 : Birth length less than 3rd percentile |
2.8% |
3/106 |
| Birth Weight abnormalities |
10.4% |
11/106 |
| < P3 : Small for gestational age |
10.4% |
11/106 |
| Birth Head circumference abnormalities |
4.8% |
5/105 |
| > P98 : Macrocephaly at birth |
1.9% |
2/105 |
| < P3 : Congenital microcephaly |
2.9% |
3/105 |
| Current Height abnormalities |
25.5% |
27/106 |
| < P3 : Short stature |
20.8% |
22/106 |
| > P98 : Tall stature |
4.7% |
5/106 |
| Current Weight abnormalities |
22.6% |
24/106 |
| < P3 : Decreased body weight |
17.0% |
18/106 |
| > P98 : Increased body weight |
5.7% |
6/106 |
| Current Head circumference abnormalities |
25.5% |
27/106 |
| > P98 : Macrocephaly |
14.2% |
15/106 |
| < P3 : Microcephaly |
11.3% |
12/106 |
| Neurology |
|
|
| Neurological abnormalities |
74.4% |
61/82 |
| Generalized hypotonia |
28.0% |
23/82 |
| Seizures |
19.5% |
16/82 |
| EEG abnormality |
8.5% |
7/82 |
| Febrile seizures |
7.3% |
6/82 |
| Gait disturbance |
6.1% |
5/82 |
| Central hypotonia |
4.9% |
4/82 |
| Generalized tonic-clonic seizures |
4.9% |
4/82 |
| Absence seizures |
3.7% |
3/82 |
| Focal seizures with impairment of consciousness or awareness |
3.7% |
3/82 |
| Gait ataxia |
3.7% |
3/82 |
| Generalized tonic seizures |
2.4% |
2/82 |
| Neonatal hypotonia |
2.4% |
2/82 |
| Abnormal nerve conduction velocity |
1.2% |
1/82 |
| Abnormality of pelvic girdle bone morphology |
1.2% |
1/82 |
| Aganglionic megacolon |
1.2% |
1/82 |
| Arnold-Chiari malformation |
1.2% |
1/82 |
| Atypical absence seizures |
1.2% |
1/82 |
| Bilateral convulsive seizures |
1.2% |
1/82 |
| Delayed speech and language development |
1.2% |
1/82 |
| Epileptic encephalopathy |
1.2% |
1/82 |
| Focal seizures |
1.2% |
1/82 |
| Focal seizures without impairment of consciousness or awareness |
1.2% |
1/82 |
| Generalized seizures |
1.2% |
1/82 |
| Generalized neonatal hypotonia |
1.2% |
1/82 |
| Generalized myoclonic seizures |
1.2% |
1/82 |
| Global developmental delay |
1.2% |
1/82 |
| Hypertonia |
1.2% |
1/82 |
| Hyperreflexia |
1.2% |
1/82 |
| Infantile spasms |
1.2% |
1/82 |
| Kyphoscoliosis |
1.2% |
1/82 |
| Lower limb asymmetry |
1.2% |
1/82 |
| Motor delay |
1.2% |
1/82 |
| Muscular hypotonia |
1.2% |
1/82 |
| Neurodevelopmental delay |
1.2% |
1/82 |
| Postural instability |
1.2% |
1/82 |
| Progressive neurologic deterioration |
1.2% |
1/82 |
| Stroke |
1.2% |
1/82 |
| Behavioral problems |
66.7% |
52/78 |
| Autistic behavior |
21.8% |
17/78 |
| Attention deficit hyperactivity disorder |
16.7% |
13/78 |
| Short attention span |
16.7% |
13/78 |
| Autism |
12.8% |
10/78 |
| Hyperactivity |
10.3% |
8/78 |
| Aggressive behavior |
7.7% |
6/78 |
| Behavioral abnormality |
6.4% |
5/78 |
| Pain insensitivity |
6.4% |
5/78 |
| Abnormal fear/anxiety-related behavior |
3.8% |
3/78 |
| Anxiety |
3.8% |
3/78 |
| Impaired social interactions |
3.8% |
3/78 |
| Impulsivity |
3.8% |
3/78 |
| Self-mutilation |
3.8% |
3/78 |
| Stereotypic behavior |
3.8% |
3/78 |
| Repetitive compulsive behavior |
2.6% |
2/78 |
| Sleep disturbance |
2.6% |
2/78 |
| Abnormal aggressive, impulsive or violent behavior |
1.3% |
1/78 |
| Contracture of the proximal interphalangeal joint of the 2nd finger |
1.3% |
1/78 |
| Emotional lability |
1.3% |
1/78 |
| Feeding difficulties in infancy |
1.3% |
1/78 |
| Impaired ability to form peer relationships |
1.3% |
1/78 |
| Inappropriate crying |
1.3% |
1/78 |
| Irritability |
1.3% |
1/78 |
| Mutism |
1.3% |
1/78 |
| Obsessive-compulsive behavior |
1.3% |
1/78 |
| Obsessive-compulsive trait |
1.3% |
1/78 |
| Phonophobia |
1.3% |
1/78 |
| Poor coordination |
1.3% |
1/78 |
| Restlessness |
1.3% |
1/78 |
| Restrictive behavior |
1.3% |
1/78 |
| Self-injurious behavior |
1.3% |
1/78 |
| Brain abnormality |
79.8% |
67/84 |
| Agenesis of corpus callosum |
26.2% |
22/84 |
| Dandy-Walker malformation |
10.7% |
9/84 |
| Hypoplasia of the corpus callosum |
10.7% |
9/84 |
| Ventriculomegaly |
10.7% |
9/84 |
| Delayed myelination |
7.1% |
6/84 |
| Cerebellar vermis hypoplasia |
6.0% |
5/84 |
| Enlarged cisterna magna |
6.0% |
5/84 |
| Hydrocephalus |
6.0% |
5/84 |
| Abnormality of the corpus callosum |
4.8% |
4/84 |
| Aplasia/Hypoplasia of the cerebellum |
4.8% |
4/84 |
| Partial agenesis of the corpus callosum |
4.8% |
4/84 |
| Cerebral atrophy |
3.6% |
3/84 |
| Cerebellar hypoplasia |
3.6% |
3/84 |
| Colpocephaly |
3.6% |
3/84 |
| Dysplastic corpus callosum |
3.6% |
3/84 |
| Heterotopia |
3.6% |
3/84 |
| Abnormality of the choroid plexus |
2.4% |
2/84 |
| Abnormality of the cerebral cortex |
2.4% |
2/84 |
| Abnormality of the cerebellum |
2.4% |
2/84 |
| Arachnoid cyst |
2.4% |
2/84 |
| Arnold-Chiari malformation |
2.4% |
2/84 |
| Intracranial cystic lesion |
2.4% |
2/84 |
| Mild fetal ventriculomegaly |
2.4% |
2/84 |
| Perivascular spaces |
2.4% |
2/84 |
| Posterior fossa cyst |
2.4% |
2/84 |
| Widened subarachnoid space |
2.4% |
2/84 |
| Abnormality of the dentate nucleus |
1.2% |
1/84 |
| Abnormality of brainstem morphology |
1.2% |
1/84 |
| Abnormality of the cerebellar vermis |
1.2% |
1/84 |
| Abnormality of the cerebrum |
1.2% |
1/84 |
| Abnormal cortical gyration |
1.2% |
1/84 |
| Abnormality of lateral ventricle |
1.2% |
1/84 |
| Abnormality of the fourth ventricle |
1.2% |
1/84 |
| Abnormality of the pituitary gland |
1.2% |
1/84 |
| Abnormality of the posterior cranial fossa |
1.2% |
1/84 |
| Abnormal length of corpus callosum |
1.2% |
1/84 |
| Absent septum pellucidum |
1.2% |
1/84 |
| Agenesis of the anterior commissure |
1.2% |
1/84 |
| Anterior pituitary hypoplasia |
1.2% |
1/84 |
| Aplasia/Hypoplasia of the cerebellar vermis |
1.2% |
1/84 |
| Aplasia/Hypoplasia of the corpus callosum |
1.2% |
1/84 |
| Atrophy/Degeneration affecting the cerebrum |
1.2% |
1/84 |
| Brachycephaly |
1.2% |
1/84 |
| Cerebral hypomyelination |
1.2% |
1/84 |
| Cerebral hemorrhage |
1.2% |
1/84 |
| Cerebral hamartomata |
1.2% |
1/84 |
| Cerebral hypoplasia |
1.2% |
1/84 |
| Cortical dysplasia |
1.2% |
1/84 |
| Dilated third ventricle |
1.2% |
1/84 |
| Ectopic posterior pituitary |
1.2% |
1/84 |
| Epidural hemorrhage |
1.2% |
1/84 |
| Gray matter heterotopias |
1.2% |
1/84 |
| Holoprosencephaly |
1.2% |
1/84 |
| Hyperostosis frontalis interna |
1.2% |
1/84 |
| Hypoplasia of the frontal lobes |
1.2% |
1/84 |
| Hypothalamic hamartoma |
1.2% |
1/84 |
| Limbic malformations |
1.2% |
1/84 |
| Morphological abnormality of the central nervous system |
1.2% |
1/84 |
| Periventricular gray matter heterotopia |
1.2% |
1/84 |
| Periventricular leukomalacia |
1.2% |
1/84 |
| Polyhydramnios |
1.2% |
1/84 |
| Severely dysplastic cerebellum |
1.2% |
1/84 |
| Short corpus callosum |
1.2% |
1/84 |
| Villous hypertrophy of choroid plexus |
1.2% |
1/84 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
67.8% |
59/87 |
| Low-set ears |
23.0% |
20/87 |
| Abnormality of the pinna |
16.1% |
14/87 |
| Microtia |
8.0% |
7/87 |
| Posteriorly rotated ears |
8.0% |
7/87 |
| Low-set, posteriorly rotated ears |
6.9% |
6/87 |
| Microtia, third degree |
3.4% |
3/87 |
| Preauricular pit |
3.4% |
3/87 |
| Protruding ear |
3.4% |
3/87 |
| Abnormality of the helix |
2.3% |
2/87 |
| Anteverted ears |
2.3% |
2/87 |
| Cupped ear |
2.3% |
2/87 |
| Forward facing earlobe |
2.3% |
2/87 |
| Macrotia |
2.3% |
2/87 |
| Periauricular skin pits |
2.3% |
2/87 |
| Preauricular skin tag |
2.3% |
2/87 |
| Small earlobe |
2.3% |
2/87 |
| Abnormality of earlobe |
1.1% |
1/87 |
| Abnormal location of ears |
1.1% |
1/87 |
| Abnormality of the auditory canal |
1.1% |
1/87 |
| Anterior creases of earlobe |
1.1% |
1/87 |
| Aplasia/Hypoplasia of the tragus |
1.1% |
1/87 |
| Aplasia/Hypoplasia of the earlobes |
1.1% |
1/87 |
| Auricular pit |
1.1% |
1/87 |
| Cleft earlobe |
1.1% |
1/87 |
| Coarse facial features |
1.1% |
1/87 |
| External ear malformation |
1.1% |
1/87 |
| Frontal bossing |
1.1% |
1/87 |
| Large earlobe |
1.1% |
1/87 |
| Low posterior hairline |
1.1% |
1/87 |
| Overfolded helix |
1.1% |
1/87 |
| Pointed helix |
1.1% |
1/87 |
| Prominent antihelix |
1.1% |
1/87 |
| Sparse body hair |
1.1% |
1/87 |
| Telecanthus |
1.1% |
1/87 |
| Uplifted earlobe |
1.1% |
1/87 |
| Abnormality of the eye |
86.8% |
79/91 |
| Long eyelashes |
34.1% |
31/91 |
| Thick eyebrow |
34.1% |
31/91 |
| Hypertelorism |
30.8% |
28/91 |
| Ptosis |
16.5% |
15/91 |
| Downslanted palpebral fissures |
9.9% |
9/91 |
| Upslanted palpebral fissure |
9.9% |
9/91 |
| Deeply set eye |
6.6% |
6/91 |
| Highly arched eyebrow |
6.6% |
6/91 |
| Sparse eyebrow |
6.6% |
6/91 |
| Strabismus |
4.4% |
4/91 |
| Epicanthus |
3.3% |
3/91 |
| Long palpebral fissure |
3.3% |
3/91 |
| Synophrys |
3.3% |
3/91 |
| Blepharophimosis |
2.2% |
2/91 |
| Small palpebral fissure |
2.2% |
2/91 |
| Sparse lateral eyebrow |
2.2% |
2/91 |
| Abnormal size of the palpebral fissures |
1.1% |
1/91 |
| Abnormality of the eyelid |
1.1% |
1/91 |
| Abnormality of the palpebral fissures |
1.1% |
1/91 |
| Abnormality of the lacrimal duct |
1.1% |
1/91 |
| Abnormality of the periorbital region |
1.1% |
1/91 |
| Abnormality of the philtrum |
1.1% |
1/91 |
| Anterior segment dysgenesis |
1.1% |
1/91 |
| Anterior uveitis |
1.1% |
1/91 |
| Anteverted nares |
1.1% |
1/91 |
| Aplasia/Hypoplasia of the eyebrow |
1.1% |
1/91 |
| Bilateral ptosis |
1.1% |
1/91 |
| Broad eyebrow |
1.1% |
1/91 |
| Coloboma |
1.1% |
1/91 |
| Epibulbar dermoid |
1.1% |
1/91 |
| Exotropia |
1.1% |
1/91 |
| Hyperopic astigmatism |
1.1% |
1/91 |
| Iris atrophy |
1.1% |
1/91 |
| Long philtrum |
1.1% |
1/91 |
| Microphthalmia |
1.1% |
1/91 |
| Optic nerve coloboma |
1.1% |
1/91 |
| Palpebral fissure narrowing on adduction |
1.1% |
1/91 |
| Palpebral edema |
1.1% |
1/91 |
| Periorbital fullness |
1.1% |
1/91 |
| Retinal dysplasia |
1.1% |
1/91 |
| Short palpebral fissure |
1.1% |
1/91 |
| Sparse or absent eyelashes |
1.1% |
1/91 |
| Sparse eyelashes |
1.1% |
1/91 |
| Unilateral strabismus |
1.1% |
1/91 |
| Unilateral ptosis |
1.1% |
1/91 |
| Abnormality of the nose |
80.9% |
72/89 |
| Wide nasal bridge |
24.7% |
22/89 |
| Thick nasal alae |
22.5% |
20/89 |
| Anteverted nares |
21.3% |
19/89 |
| Depressed nasal bridge |
21.3% |
19/89 |
| Broad nasal tip |
20.2% |
18/89 |
| Wide nose |
16.9% |
15/89 |
| Short nose |
15.7% |
14/89 |
| Long philtrum |
14.6% |
13/89 |
| Bulbous nose |
10.1% |
9/89 |
| Short philtrum |
10.1% |
9/89 |
| Broad philtrum |
6.7% |
6/89 |
| Prominent nasal bridge |
5.6% |
5/89 |
| Low hanging columella |
4.5% |
4/89 |
| Smooth philtrum |
3.4% |
3/89 |
| Wide nasal base |
3.4% |
3/89 |
| Abnormality of the nasal alae |
2.2% |
2/89 |
| Abnormality of the nasal tip |
2.2% |
2/89 |
| Depressed nasal tip |
2.2% |
2/89 |
| Epicanthus |
2.2% |
2/89 |
| Long nose |
2.2% |
2/89 |
| Absent nasal bridge |
1.1% |
1/89 |
| Choanal stenosis |
1.1% |
1/89 |
| Cleft palate |
1.1% |
1/89 |
| Narrow nasal bridge |
1.1% |
1/89 |
| Abnormality of the mouth |
84.6% |
77/91 |
| Thick lower lip vermilion |
47.3% |
43/91 |
| Wide mouth |
35.2% |
32/91 |
| Thick upper lip vermilion |
28.6% |
26/91 |
| High palate |
16.5% |
15/91 |
| Thin upper lip vermilion |
12.1% |
11/91 |
| Retrognathia |
11.0% |
10/91 |
| Everted lower lip vermilion |
9.9% |
9/91 |
| Micrognathia |
7.7% |
7/91 |
| Coarse facial features |
4.4% |
4/91 |
| Long philtrum |
4.4% |
4/91 |
| Macroglossia |
4.4% |
4/91 |
| Absent speech |
3.3% |
3/91 |
| Cleft palate |
3.3% |
3/91 |
| Downturned corners of mouth |
3.3% |
3/91 |
| Thin lower lip vermilion |
3.3% |
3/91 |
| Broad philtrum |
2.2% |
2/91 |
| Everted upper lip vermilion |
2.2% |
2/91 |
| Nasogastric tube feeding in infancy |
2.2% |
2/91 |
| Thick vermilion border |
2.2% |
2/91 |
| Abnormality of lower lip |
1.1% |
1/91 |
| Abnormality of upper lip |
1.1% |
1/91 |
| Abnormal lung lobation |
1.1% |
1/91 |
| Ankyloglossia |
1.1% |
1/91 |
| Delayed eruption of teeth |
1.1% |
1/91 |
| Dental malocclusion |
1.1% |
1/91 |
| Feeding difficulties |
1.1% |
1/91 |
| Feeding difficulties in infancy |
1.1% |
1/91 |
| Gastrostomy tube feeding in infancy |
1.1% |
1/91 |
| Hypomimic face |
1.1% |
1/91 |
| Hypoplasia of the maxilla |
1.1% |
1/91 |
| Long face |
1.1% |
1/91 |
| Microretrognathia |
1.1% |
1/91 |
| Misalignment of teeth |
1.1% |
1/91 |
| Narrow palate |
1.1% |
1/91 |
| Open mouth |
1.1% |
1/91 |
| Pierre-Robin sequence |
1.1% |
1/91 |
| Poor suck |
1.1% |
1/91 |
| Premature loss of teeth |
1.1% |
1/91 |
| Protruding tongue |
1.1% |
1/91 |
| Short philtrum |
1.1% |
1/91 |
| Short lingual frenulum |
1.1% |
1/91 |
| Short chin |
1.1% |
1/91 |
| Smooth philtrum |
1.1% |
1/91 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
45.9% |
34/74 |
| Glue ear |
13.5% |
10/74 |
| Conductive hearing impairment |
10.8% |
8/74 |
| Hearing impairment |
8.1% |
6/74 |
| Stenosis of the external auditory canal |
5.4% |
4/74 |
| Abnormality of the auditory canal |
4.1% |
3/74 |
| Cholesteatoma |
4.1% |
3/74 |
| Mild hearing impairment |
4.1% |
3/74 |
| Atresia of the external auditory canal |
2.7% |
2/74 |
| Morphological abnormality of the middle ear |
2.7% |
2/74 |
| Narrow internal auditory canal |
2.7% |
2/74 |
| Sensorineural hearing impairment |
2.7% |
2/74 |
| Unilateral deafness |
2.7% |
2/74 |
| Abnormality of the middle ear |
1.4% |
1/74 |
| Aplasia/Hypoplasia of the middle ear |
1.4% |
1/74 |
| Bilateral sensorineural hearing impairment |
1.4% |
1/74 |
| Childhood onset sensorineural hearing impairment |
1.4% |
1/74 |
| Chronic otitis media |
1.4% |
1/74 |
| Excessive cerumen |
1.4% |
1/74 |
| Functional abnormality of the middle ear |
1.4% |
1/74 |
| Mid-frequency hearing loss |
1.4% |
1/74 |
| Mild conductive hearing impairment |
1.4% |
1/74 |
| Moderate sensorineural hearing impairment |
1.4% |
1/74 |
| Morphological abnormality of the inner ear |
1.4% |
1/74 |
| Recurrent otitis media |
1.4% |
1/74 |
| Unilateral conductive hearing impairment |
1.4% |
1/74 |
| Abnormal vision |
66.7% |
52/78 |
| Strabismus |
24.4% |
19/78 |
| Myopia |
15.4% |
12/78 |
| Esotropia |
11.5% |
9/78 |
| Hypermetropia |
9.0% |
7/78 |
| Astigmatism |
7.7% |
6/78 |
| Amblyopia |
5.1% |
4/78 |
| Cortical visual impairment |
3.8% |
3/78 |
| Exotropia |
3.8% |
3/78 |
| Nystagmus |
3.8% |
3/78 |
| Severe Myopia |
3.8% |
3/78 |
| Visual impairment |
3.8% |
3/78 |
| High-grade hypermetropia |
2.6% |
2/78 |
| Hyperopic astigmatism |
2.6% |
2/78 |
| Retinopathy |
2.6% |
2/78 |
| Abnormality of the choroid |
1.3% |
1/78 |
| Abnormality of vision |
1.3% |
1/78 |
| Abnormality of the macula |
1.3% |
1/78 |
| Abnormality of the eye |
1.3% |
1/78 |
| Anterior segment dysgenesis |
1.3% |
1/78 |
| Cataract |
1.3% |
1/78 |
| Coloboma |
1.3% |
1/78 |
| Congenital horizontal nystagmus |
1.3% |
1/78 |
| Glaucoma |
1.3% |
1/78 |
| Optic nerve hypoplasia |
1.3% |
1/78 |
| Optic nerve coloboma |
1.3% |
1/78 |
| Retinal dysplasia |
1.3% |
1/78 |
| Self-mutilation |
1.3% |
1/78 |
| Unilateral strabismus |
1.3% |
1/78 |
| Heart |
|
|
| Abnormality of the heart |
48.9% |
46/94 |
| Ventricular septal defect |
12.8% |
12/94 |
| Patent foramen ovale |
8.5% |
8/94 |
| Atria septal defect |
7.4% |
7/94 |
| Patent ductus arteriosus |
7.4% |
7/94 |
| Coarctation of aorta |
5.3% |
5/94 |
| Persistent left superior vena cava |
5.3% |
5/94 |
| Secundum atrial septal defect |
5.3% |
5/94 |
| Abnormality of the vena cava |
4.3% |
4/94 |
| Abnormality of the atrial septum |
3.2% |
3/94 |
| Abnormality of the mitral valve |
3.2% |
3/94 |
| Abnormal heart morphology |
3.2% |
3/94 |
| Hypoplastic aortic arch |
3.2% |
3/94 |
| Perimembranous ventricular septal defect |
3.2% |
3/94 |
| Pulmonary hypertension |
3.2% |
3/94 |
| Right ventricular dilatation |
3.2% |
3/94 |
| Abnormality of the right ventricle |
2.1% |
2/94 |
| Abnormality of the aorta |
2.1% |
2/94 |
| Atrial flutter |
2.1% |
2/94 |
| Bicuspid aortic valve |
2.1% |
2/94 |
| Double outlet right ventricle |
2.1% |
2/94 |
| Hypoplastic left heart |
2.1% |
2/94 |
| Abnormal ventriculo-arterial connection |
1.1% |
1/94 |
| Abnormality of the ventricular septum |
1.1% |
1/94 |
| Abnormality of the aortic arch |
1.1% |
1/94 |
| Anomalous muscle bundle of the right ventricle |
1.1% |
1/94 |
| Aortic root dilatation |
1.1% |
1/94 |
| Aortic dilatation |
1.1% |
1/94 |
| Aortic valve stenosis |
1.1% |
1/94 |
| Atrioventricular block |
1.1% |
1/94 |
| Bilateral superior vena cava with bridging vein |
1.1% |
1/94 |
| Cardiogenic shock |
1.1% |
1/94 |
| Complete atrioventricular canal defect |
1.1% |
1/94 |
| Congenital malformation of the right heart |
1.1% |
1/94 |
| Dextrocardia |
1.1% |
1/94 |
| Hypertrophic cardiomyopathy |
1.1% |
1/94 |
| Imperforate atrioventricular valve |
1.1% |
1/94 |
| Left-to-right shunt |
1.1% |
1/94 |
| Left superior vena cava draining to coronary sinus |
1.1% |
1/94 |
| Mitral valve prolapse |
1.1% |
1/94 |
| Partial anomalous pulmonary venous return |
1.1% |
1/94 |
| Partial atrioventricular canal defect |
1.1% |
1/94 |
| Patent ductus arteriosus after birth at term |
1.1% |
1/94 |
| Pericardial effusion |
1.1% |
1/94 |
| Postductal coarctation of the aorta |
1.1% |
1/94 |
| Primary atrial arrhythmia |
1.1% |
1/94 |
| Pulmonary valve defects |
1.1% |
1/94 |
| Pulmonic stenosis |
1.1% |
1/94 |
| Right atrial enlargement |
1.1% |
1/94 |
| Right ventricular hypertrophy |
1.1% |
1/94 |
| Tetralogy of Fallot |
1.1% |
1/94 |
| Transposition of the great arteries |
1.1% |
1/94 |
| Vascular ring |
1.1% |
1/94 |
| Ventricular preexcitation |
1.1% |
1/94 |
| Wolff-Parkinson-White syndrome |
1.1% |
1/94 |
| Pulmonary |
|
|
| Abnormality of the lungs |
51.0% |
26/51 |
| Neonatal respiratory distress |
25.5% |
13/51 |
| Recurrent respiratory infections |
13.7% |
7/51 |
| Laryngomalacia |
11.8% |
6/51 |
| Pulmonary hypertension |
5.9% |
3/51 |
| Asthma |
3.9% |
2/51 |
| Abnormality of the respiratory system |
2.0% |
1/51 |
| Abnormality of the vocal cords |
2.0% |
1/51 |
| Allergic rhinitis |
2.0% |
1/51 |
| Chronic lung disease |
2.0% |
1/51 |
| Recurrent upper respiratory tract infections |
2.0% |
1/51 |
| Respiratory failure |
2.0% |
1/51 |
| Respiratory insufficiency |
2.0% |
1/51 |
| Respiratory distress |
2.0% |
1/51 |
| Spontaneous neonatal pneumothorax |
2.0% |
1/51 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
72.5% |
66/91 |
| Feeding difficulties in infancy |
20.9% |
19/91 |
| Gastroesophageal reflux |
16.5% |
15/91 |
| Feeding difficulties |
15.4% |
14/91 |
| Nasogastric tube feeding in infancy |
15.4% |
14/91 |
| Gastrostomy tube feeding in infancy |
13.2% |
12/91 |
| Constipation |
11.0% |
10/91 |
| Failure to thrive in infancy |
6.6% |
6/91 |
| Episodic vomiting |
5.5% |
5/91 |
| Chronic constipation |
4.4% |
4/91 |
| Poor suck |
4.4% |
4/91 |
| Anal atresia |
3.3% |
3/91 |
| Congenital diaphragmatic hernia |
3.3% |
3/91 |
| Abdominal distention |
2.2% |
2/91 |
| Fatigable weakness of swallowing muscles |
2.2% |
2/91 |
| Inguinal hernia |
2.2% |
2/91 |
| Pyloric stenosis |
2.2% |
2/91 |
| Abnormal eating behavior |
1.1% |
1/91 |
| Absent gallbladder |
1.1% |
1/91 |
| Aganglionic megacolon |
1.1% |
1/91 |
| Agenesis of the diaphragm |
1.1% |
1/91 |
| Anal stenosis |
1.1% |
1/91 |
| Anorectal anomaly |
1.1% |
1/91 |
| Anteriorly placed anus |
1.1% |
1/91 |
| Congenital pyloric atresia |
1.1% |
1/91 |
| Crohn's disease |
1.1% |
1/91 |
| Elevated hepatic transaminases |
1.1% |
1/91 |
| Functional abnormality of the gastrointestinal tract |
1.1% |
1/91 |
| Gastritis |
1.1% |
1/91 |
| Ileal atresia |
1.1% |
1/91 |
| Intestinal obstruction |
1.1% |
1/91 |
| Malnutrition |
1.1% |
1/91 |
| Polysplenia |
1.1% |
1/91 |
| Protuberant abdomen |
1.1% |
1/91 |
| Single umbilical artery |
1.1% |
1/91 |
| Urethral fistula |
1.1% |
1/91 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
39.1% |
36/92 |
| Bilateral cryptorchidism |
4.3% |
4/92 |
| Hydronephrosis |
3.3% |
3/92 |
| Unilateral cryptorchidism |
3.3% |
3/92 |
| Abnormality of the uterus |
2.2% |
2/92 |
| Bifid ureter |
2.2% |
2/92 |
| Hypoplasia of the uterus |
2.2% |
2/92 |
| Hypospadias |
2.2% |
2/92 |
| Multiple renal cysts |
2.2% |
2/92 |
| Renal hypoplasia |
2.2% |
2/92 |
| Ureter duplex |
2.2% |
2/92 |
| Uterus didelphys |
2.2% |
2/92 |
| Abnormality of the kidney |
1.1% |
1/92 |
| Abnormality of the mesentery |
1.1% |
1/92 |
| Abnormality of the renal pelvis |
1.1% |
1/92 |
| Abnormality of the anus |
1.1% |
1/92 |
| Acute kidney injury |
1.1% |
1/92 |
| Anal atresia |
1.1% |
1/92 |
| Anteriorly placed anus |
1.1% |
1/92 |
| Congenital megaureter |
1.1% |
1/92 |
| Cryptorchidism |
1.1% |
1/92 |
| Dilatation of the renal pelvis |
1.1% |
1/92 |
| Duplicated collecting system |
1.1% |
1/92 |
| Ectopic kidney |
1.1% |
1/92 |
| Horseshoe kidney |
1.1% |
1/92 |
| Hyperplastic labia majora |
1.1% |
1/92 |
| Hypoplastic labia majora |
1.1% |
1/92 |
| Inguinal hernia |
1.1% |
1/92 |
| Megacalicosis |
1.1% |
1/92 |
| Multiple bladder diverticula |
1.1% |
1/92 |
| Nephrolithiasis |
1.1% |
1/92 |
| Paraphimosis |
1.1% |
1/92 |
| Pelvic kidney |
1.1% |
1/92 |
| Pyelonephritis |
1.1% |
1/92 |
| Recurrent urinary tract infections |
1.1% |
1/92 |
| Renal malrotation |
1.1% |
1/92 |
| Unilateral renal dysplasia |
1.1% |
1/92 |
| Unilateral renal agenesis |
1.1% |
1/92 |
| Ureteral duplication |
1.1% |
1/92 |
| Ureteropelvic junction obstruction |
1.1% |
1/92 |
| Skeleton |
|
|
| Skeletal abnormalities |
88.7% |
86/97 |
| Joint laxity |
20.6% |
20/97 |
| Pes planus |
19.6% |
19/97 |
| Scoliosis |
18.6% |
18/97 |
| Short 5th finger |
14.4% |
14/97 |
| Clinodactyly of the 5th finger |
10.3% |
10/97 |
| Short distal phalanx of the 5th finger |
8.2% |
8/97 |
| Short stature |
8.2% |
8/97 |
| Delayed eruption of teeth |
6.2% |
6/97 |
| Delayed eruption of permanent teeth |
6.2% |
6/97 |
| Dental crowding |
6.2% |
6/97 |
| Sandal gap |
6.2% |
6/97 |
| Broad thumb |
5.2% |
5/97 |
| Widely spaced teeth |
5.2% |
5/97 |
| Broad hallux |
4.1% |
4/97 |
| Camptodactyly |
4.1% |
4/97 |
| Delayed eruption of primary teeth |
4.1% |
4/97 |
| Growth delay |
4.1% |
4/97 |
| Irregular dentition |
4.1% |
4/97 |
| Kyphoscoliosis |
4.1% |
4/97 |
| Macrocephaly |
4.1% |
4/97 |
| Pectus excavatum |
4.1% |
4/97 |
| Short middle phalanx of the 5th finger |
4.1% |
4/97 |
| Dental malocclusion |
3.1% |
3/97 |
| Muscle weakness |
3.1% |
3/97 |
| Plagiocephaly |
3.1% |
3/97 |
| Prominent interphalangeal joints |
3.1% |
3/97 |
| Sacral dimple |
3.1% |
3/97 |
| Short 5th toe |
3.1% |
3/97 |
| Short distal phalanx of the 5th toe |
3.1% |
3/97 |
| Short finger |
3.1% |
3/97 |
| Abnormality of the lumbar spine |
2.1% |
2/97 |
| Abnormality of the teeth |
2.1% |
2/97 |
| Abnormality of the ribs |
2.1% |
2/97 |
| Abnormality of the foot |
2.1% |
2/97 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
2.1% |
2/97 |
| Clinodactyly |
2.1% |
2/97 |
| Curved hallux phalanx |
2.1% |
2/97 |
| Dolichocephaly |
2.1% |
2/97 |
| Frontal bossing |
2.1% |
2/97 |
| Genu recurvatum |
2.1% |
2/97 |
| Genu valgum |
2.1% |
2/97 |
| Hallux valgus |
2.1% |
2/97 |
| Hip dysplasia |
2.1% |
2/97 |
| Hyperlordosis |
2.1% |
2/97 |
| Long fingers |
2.1% |
2/97 |
| Long hallux |
2.1% |
2/97 |
| Misalignment of teeth |
2.1% |
2/97 |
| Short distal phalanx of finger |
2.1% |
2/97 |
| Supernumerary ribs |
2.1% |
2/97 |
| Talipes equinovarus |
2.1% |
2/97 |
| Abnormality of the cervical spine |
1.0% |
1/97 |
| Abnormality of the thoracic spine |
1.0% |
1/97 |
| Abnormality of the 5th finger |
1.0% |
1/97 |
| Abnormality of the thumb |
1.0% |
1/97 |
| Abnormality of the vertebral column |
1.0% |
1/97 |
| Abnormal vertebral segmentation and fusion |
1.0% |
1/97 |
| Abnormality of digit |
1.0% |
1/97 |
| Abnormality of the sternum |
1.0% |
1/97 |
| Abnormality of the 4th toe |
1.0% |
1/97 |
| Abnormality of the 3rd finger |
1.0% |
1/97 |
| Abnormality of the femur |
1.0% |
1/97 |
| Abnormality of the skeletal system |
1.0% |
1/97 |
| Abnormality of multiple cell lineages in the bone marrow |
1.0% |
1/97 |
| Abnormality of mandibular ramus |
1.0% |
1/97 |
| Abnormality of cranial sutures |
1.0% |
1/97 |
| Aplasia/Hypoplasia of the middle phalanx of the 5th toe |
1.0% |
1/97 |
| Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
1.0% |
1/97 |
| Aplasia of the distal phalanx of the 5th toe |
1.0% |
1/97 |
| Aplastic anemia |
1.0% |
1/97 |
| Aplasia of the distal phalanx of the 5th finger |
1.0% |
1/97 |
| Aplasia/Hypoplasia of the mandible |
1.0% |
1/97 |
| Arthrogryposis multiplex congenita |
1.0% |
1/97 |
| Bilateral choanal atresia |
1.0% |
1/97 |
| Bilateral camptodactyly |
1.0% |
1/97 |
| Brachytelomesophalangy |
1.0% |
1/97 |
| Brachycephaly |
1.0% |
1/97 |
| Broad 1st metacarpal |
1.0% |
1/97 |
| Broad distal phalanx of finger |
1.0% |
1/97 |
| Broad distal phalanx of the toes |
1.0% |
1/97 |
| Broad distal hallux |
1.0% |
1/97 |
| Broad distal phalanx of the thumb |
1.0% |
1/97 |
| Broad toe |
1.0% |
1/97 |
| Bruxism |
1.0% |
1/97 |
| Butterfly vertebrae |
1.0% |
1/97 |
| Calf muscle hypoplasia |
1.0% |
1/97 |
| Cervical vertebral fusion (C2/C3) |
1.0% |
1/97 |
| Clinodactyly of the 2nd toe |
1.0% |
1/97 |
| Clinodactyly of the 3rd toe |
1.0% |
1/97 |
| Clinodactyly of the 4th toe |
1.0% |
1/97 |
| Compensatory scoliosis |
1.0% |
1/97 |
| Contracture of the proximal interphalangeal joint of the 2nd finger |
1.0% |
1/97 |
| Coronal craniosynostosis |
1.0% |
1/97 |
| Craniosynostosis |
1.0% |
1/97 |
| Curved phalanges of the 5th finger |
1.0% |
1/97 |
| Delayed skeletal maturation |
1.0% |
1/97 |
| Deviation of the 5th toe |
1.0% |
1/97 |
| Dysharmonic bone age |
1.0% |
1/97 |
| Dysplastic sacrum |
1.0% |
1/97 |
| Dystonia |
1.0% |
1/97 |
| Enlarged interphalangeal joints |
1.0% |
1/97 |
| Equinus calcaneus |
1.0% |
1/97 |
| Failure to thrive in infancy |
1.0% |
1/97 |
| Fetal fifth finger clinodactyly |
1.0% |
1/97 |
| Finger clinodactyly |
1.0% |
1/97 |
| Hand polydactyly |
1.0% |
1/97 |
| High palate |
1.0% |
1/97 |
| Hypertrichosis |
1.0% |
1/97 |
| Inguinal hernia |
1.0% |
1/97 |
| Kyphosis |
1.0% |
1/97 |
| Limb dysmetria |
1.0% |
1/97 |
| Lower limb amyotrophy |
1.0% |
1/97 |
| Lumbar kyphoscoliosis |
1.0% |
1/97 |
| Lumbar hyperlordosis |
1.0% |
1/97 |
| Medial deviation of the foot |
1.0% |
1/97 |
| Metopic synostosis |
1.0% |
1/97 |
| Microcephaly |
1.0% |
1/97 |
| Multiple joint contractures |
1.0% |
1/97 |
| Narrow internal auditory canal |
1.0% |
1/97 |
| Narrow forehead |
1.0% |
1/97 |
| Narrow foot |
1.0% |
1/97 |
| Oligodontia |
1.0% |
1/97 |
| Overlapping toe |
1.0% |
1/97 |
| Pain insensitivity |
1.0% |
1/97 |
| Patellar dislocation |
1.0% |
1/97 |
| Pectus excavatum of inferior sternum |
1.0% |
1/97 |
| Pes cavus |
1.0% |
1/97 |
| Pierre-Robin sequence |
1.0% |
1/97 |
| Polyarticular arthritis |
1.0% |
1/97 |
| Proximal placement of thumb |
1.0% |
1/97 |
| Recurrent patellar dislocation |
1.0% |
1/97 |
| Rocker bottom foot |
1.0% |
1/97 |
| Scapular winging |
1.0% |
1/97 |
| Short thumb |
1.0% |
1/97 |
| Short neck |
1.0% |
1/97 |
| Short 4th toe |
1.0% |
1/97 |
| Short metacarpal |
1.0% |
1/97 |
| Short metatarsal |
1.0% |
1/97 |
| Shortening of all distal phalanges of the fingers |
1.0% |
1/97 |
| Short middle phalanx of the 5th toe |
1.0% |
1/97 |
| Short 4th finger |
1.0% |
1/97 |
| Short toe |
1.0% |
1/97 |
| Short 2nd toe |
1.0% |
1/97 |
| Short middle phalanx of finger |
1.0% |
1/97 |
| Short femur |
1.0% |
1/97 |
| Short fourth metatarsal |
1.0% |
1/97 |
| Spondylolysis |
1.0% |
1/97 |
| Supernumerary vertebrae |
1.0% |
1/97 |
| Talipes calcaneovalgus |
1.0% |
1/97 |
| Talipes |
1.0% |
1/97 |
| Tapered finger |
1.0% |
1/97 |
| Thoracic hemivertebrae |
1.0% |
1/97 |
| Thoracolumbar kyphoscoliosis |
1.0% |
1/97 |
| Toe clinodactyly |
1.0% |
1/97 |
| Trigonocephaly |
1.0% |
1/97 |
| Wide intermamillary distance |
1.0% |
1/97 |
| 4-5 finger syndactyly |
1.0% |
1/97 |
| 2-3 finger syndactyly |
1.0% |
1/97 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
75.8% |
69/91 |
| Hypertrichosis |
14.3% |
13/91 |
| Hypoplastic fifth toenail |
11.0% |
10/91 |
| Low anterior hairline |
9.9% |
9/91 |
| Small nail |
9.9% |
9/91 |
| Thick hair |
9.9% |
9/91 |
| Prominent fingertip pads |
8.8% |
8/91 |
| Sparse scalp hair |
8.8% |
8/91 |
| Hypoplastic fifth fingernail |
7.7% |
7/91 |
| Aplasia/Hypoplasia of the nails |
4.4% |
4/91 |
| Facial hypertrichosis |
4.4% |
4/91 |
| Hypoplastic toenails |
4.4% |
4/91 |
| Coarse hair |
3.3% |
3/91 |
| Fingernail dysplasia |
3.3% |
3/91 |
| Hypoplastic fingernail |
3.3% |
3/91 |
| Striae distensae |
3.3% |
3/91 |
| Abnormality of the nail |
2.2% |
2/91 |
| Absent fifth fingernail |
2.2% |
2/91 |
| Atypical scarring of skin |
2.2% |
2/91 |
| Dry skin |
2.2% |
2/91 |
| Fine hair |
2.2% |
2/91 |
| Generalized hypertrichosis |
2.2% |
2/91 |
| Hyperpigmentation of the skin |
2.2% |
2/91 |
| Hypopigmentation of the skin |
2.2% |
2/91 |
| Psoriasis |
2.2% |
2/91 |
| Single transverse palmar crease |
2.2% |
2/91 |
| Abnormality of the scalp hair |
1.1% |
1/91 |
| Abnormal hair whorl |
1.1% |
1/91 |
| Abnormality of the distal phalanges of the toes |
1.1% |
1/91 |
| Abnormal hair quantity |
1.1% |
1/91 |
| Abnormality of the fingernails |
1.1% |
1/91 |
| Abnormality of hair growth rate |
1.1% |
1/91 |
| Absent fingernail |
1.1% |
1/91 |
| Absent fifth toenail |
1.1% |
1/91 |
| Absent toenail |
1.1% |
1/91 |
| Atopic dermatitis |
1.1% |
1/91 |
| Brachydactyly syndrome |
1.1% |
1/91 |
| Cafe-au-lait spot |
1.1% |
1/91 |
| Deep palmar crease |
1.1% |
1/91 |
| Deep-set nails |
1.1% |
1/91 |
| Dystrophic toenail |
1.1% |
1/91 |
| Eczema |
1.1% |
1/91 |
| Elbow hypertrichosis |
1.1% |
1/91 |
| Erythroderma |
1.1% |
1/91 |
| Extension of hair growth on temples to lateral eyebrow |
1.1% |
1/91 |
| Frontal bossing |
1.1% |
1/91 |
| Growth delay |
1.1% |
1/91 |
| Hallux valgus |
1.1% |
1/91 |
| Hemangioma |
1.1% |
1/91 |
| Keloids |
1.1% |
1/91 |
| Long eyelashes |
1.1% |
1/91 |
| Low posterior hairline |
1.1% |
1/91 |
| Lumbar hypertrichosis |
1.1% |
1/91 |
| Lumbosacral hirsutism |
1.1% |
1/91 |
| Osteopenia |
1.1% |
1/91 |
| Overlapping fingers |
1.1% |
1/91 |
| Polyarticular arthritis |
1.1% |
1/91 |
| Retrognathia |
1.1% |
1/91 |
| Sacral dimple |
1.1% |
1/91 |
| Scoliosis |
1.1% |
1/91 |
| Short neck |
1.1% |
1/91 |
| Short nail |
1.1% |
1/91 |
| Slow-growing scalp hair |
1.1% |
1/91 |
| Slow-growing nails |
1.1% |
1/91 |
| Sparse anterior scalp hair |
1.1% |
1/91 |
| Sparse hair |
1.1% |
1/91 |
| Spatulate thumbs |
1.1% |
1/91 |
| Synophrys |
1.1% |
1/91 |
| Thick nail |
1.1% |
1/91 |
| Thin fingernail |
1.1% |
1/91 |
| Thin nail |
1.1% |
1/91 |
| Vascular skin abnormality |
1.1% |
1/91 |
| Webbed neck |
1.1% |
1/91 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
18.3% |
13/71 |
| Delayed puberty |
5.6% |
4/71 |
| Hashimoto thyroiditis |
2.8% |
2/71 |
| Hypothyroidism |
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 |
| 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 respiratory infections |
5.1% |
4/79 |
| Recurrent 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 |
6.8% |
7/103 |
| Hepatoblastoma |
2.9% |
3/103 |
| Cholesteatoma |
1.9% |
2/103 |
| Acute lymphoblastic leukemia |
1.0% |
1/103 |
| Neuroblastoma |
1.0% |
1/103 |