Gender |
|
|
Male |
50.5% |
55/109 |
Female |
48.6% |
53/109 |
Indifferent |
0% |
0/109 |
Unknown |
0.9% |
1/109 |
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 myoclonic seizures |
1.2% |
1/82 |
Generalized neonatal hypotonia |
1.2% |
1/82 |
Generalized 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 trait |
1.3% |
1/78 |
Obsessive-compulsive behavior |
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 |
Cerebellar hypoplasia |
3.6% |
3/84 |
Cerebral atrophy |
3.6% |
3/84 |
Colpocephaly |
3.6% |
3/84 |
Dysplastic corpus callosum |
3.6% |
3/84 |
Heterotopia |
3.6% |
3/84 |
Abnormality of the cerebral cortex |
2.4% |
2/84 |
Abnormality of the choroid plexus |
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 lateral ventricle |
1.2% |
1/84 |
Abnormality of the cerebellar vermis |
1.2% |
1/84 |
Abnormality of the cerebrum |
1.2% |
1/84 |
Abnormality of the pituitary gland |
1.2% |
1/84 |
Abnormality of brainstem morphology |
1.2% |
1/84 |
Abnormality of the posterior cranial fossa |
1.2% |
1/84 |
Abnormality of the fourth ventricle |
1.2% |
1/84 |
Abnormality of the dentate nucleus |
1.2% |
1/84 |
Abnormal cortical gyration |
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 hemorrhage |
1.2% |
1/84 |
Cerebral hypoplasia |
1.2% |
1/84 |
Cerebral hamartomata |
1.2% |
1/84 |
Cerebral hypomyelination |
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 leukomalacia |
1.2% |
1/84 |
Periventricular gray matter heterotopia |
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 |
Abnormal location of ears |
1.1% |
1/87 |
Abnormality of earlobe |
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 philtrum |
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 |
Anterior uveitis |
1.1% |
1/91 |
Anterior segment dysgenesis |
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 edema |
1.1% |
1/91 |
Palpebral fissure narrowing on adduction |
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 ptosis |
1.1% |
1/91 |
Unilateral strabismus |
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 tip |
2.2% |
2/89 |
Abnormality of the nasal alae |
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 |
Abnormal lung lobation |
1.1% |
1/91 |
Abnormality of upper lip |
1.1% |
1/91 |
Abnormality of lower lip |
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 lingual frenulum |
1.1% |
1/91 |
Short philtrum |
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 vision |
1.3% |
1/78 |
Abnormality of the macula |
1.3% |
1/78 |
Abnormality of the eye |
1.3% |
1/78 |
Abnormality of the choroid |
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 |
Abnormal heart morphology |
3.2% |
3/94 |
Abnormality of the mitral valve |
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 aorta |
2.1% |
2/94 |
Abnormality of the right ventricle |
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 |
Abnormality of the aortic arch |
1.1% |
1/94 |
Abnormality of the ventricular septum |
1.1% |
1/94 |
Abnormal ventriculo-arterial connection |
1.1% |
1/94 |
Anomalous muscle bundle of the right ventricle |
1.1% |
1/94 |
Aortic valve stenosis |
1.1% |
1/94 |
Aortic dilatation |
1.1% |
1/94 |
Aortic root dilatation |
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 superior vena cava draining to coronary sinus |
1.1% |
1/94 |
Left-to-right shunt |
1.1% |
1/94 |
Mitral valve prolapse |
1.1% |
1/94 |
Partial atrioventricular canal defect |
1.1% |
1/94 |
Partial anomalous pulmonary venous return |
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 ventricular hypertrophy |
1.1% |
1/94 |
Right atrial enlargement |
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 distress |
2.0% |
1/51 |
Respiratory insufficiency |
2.0% |
1/51 |
Respiratory failure |
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 mesentery |
1.1% |
1/92 |
Abnormality of the anus |
1.1% |
1/92 |
Abnormality of the kidney |
1.1% |
1/92 |
Abnormality of the renal pelvis |
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 |
Ureteropelvic junction obstruction |
1.1% |
1/92 |
Ureteral duplication |
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 permanent teeth |
6.2% |
6/97 |
Delayed eruption of 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 distal phalanx of the 5th toe |
3.1% |
3/97 |
Short finger |
3.1% |
3/97 |
Short 5th toe |
3.1% |
3/97 |
Abnormality of the ribs |
2.1% |
2/97 |
Abnormality of the foot |
2.1% |
2/97 |
Abnormality of the teeth |
2.1% |
2/97 |
Abnormality of the lumbar spine |
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 valgum |
2.1% |
2/97 |
Genu recurvatum |
2.1% |
2/97 |
Hallux valgus |
2.1% |
2/97 |
Hip dysplasia |
2.1% |
2/97 |
Hyperlordosis |
2.1% |
2/97 |
Long hallux |
2.1% |
2/97 |
Long fingers |
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 4th toe |
1.0% |
1/97 |
Abnormality of the 5th finger |
1.0% |
1/97 |
Abnormality of the sternum |
1.0% |
1/97 |
Abnormality of multiple cell lineages in the bone marrow |
1.0% |
1/97 |
Abnormality of the femur |
1.0% |
1/97 |
Abnormality of the cervical spine |
1.0% |
1/97 |
Abnormality of the thoracic spine |
1.0% |
1/97 |
Abnormality of the vertebral column |
1.0% |
1/97 |
Abnormality of the skeletal system |
1.0% |
1/97 |
Abnormal vertebral segmentation and fusion |
1.0% |
1/97 |
Abnormality of digit |
1.0% |
1/97 |
Abnormality of the thumb |
1.0% |
1/97 |
Abnormality of cranial sutures |
1.0% |
1/97 |
Abnormality of mandibular ramus |
1.0% |
1/97 |
Abnormality of the 3rd finger |
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 |
Aplasia of the distal phalanx of the 5th finger |
1.0% |
1/97 |
Aplasia/Hypoplasia of the mandible |
1.0% |
1/97 |
Aplastic anemia |
1.0% |
1/97 |
Arthrogryposis multiplex congenita |
1.0% |
1/97 |
Bilateral camptodactyly |
1.0% |
1/97 |
Bilateral choanal atresia |
1.0% |
1/97 |
Brachycephaly |
1.0% |
1/97 |
Brachytelomesophalangy |
1.0% |
1/97 |
Broad 1st metacarpal |
1.0% |
1/97 |
Broad distal phalanx of finger |
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 |
Broad distal phalanx of the toes |
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 4th toe |
1.0% |
1/97 |
Clinodactyly of the 2nd toe |
1.0% |
1/97 |
Clinodactyly of the 3rd 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 foot |
1.0% |
1/97 |
Narrow forehead |
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 fourth metatarsal |
1.0% |
1/97 |
Short middle phalanx of finger |
1.0% |
1/97 |
Shortening of all distal phalanges of the fingers |
1.0% |
1/97 |
Short thumb |
1.0% |
1/97 |
Short 2nd toe |
1.0% |
1/97 |
Short femur |
1.0% |
1/97 |
Short neck |
1.0% |
1/97 |
Short metatarsal |
1.0% |
1/97 |
Short middle phalanx of the 5th toe |
1.0% |
1/97 |
Short 4th toe |
1.0% |
1/97 |
Short 4th finger |
1.0% |
1/97 |
Short toe |
1.0% |
1/97 |
Short metacarpal |
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 |
Thoracolumbar kyphoscoliosis |
1.0% |
1/97 |
Thoracic hemivertebrae |
1.0% |
1/97 |
Toe clinodactyly |
1.0% |
1/97 |
Trigonocephaly |
1.0% |
1/97 |
Wide intermamillary distance |
1.0% |
1/97 |
2-3 finger syndactyly |
1.0% |
1/97 |
4-5 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 |
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 |
Abnormality of the scalp hair |
1.1% |
1/91 |
Absent fifth toenail |
1.1% |
1/91 |
Absent toenail |
1.1% |
1/91 |
Absent fingernail |
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 nail |
1.1% |
1/91 |
Short neck |
1.1% |
1/91 |
Slow-growing scalp hair |
1.1% |
1/91 |
Slow-growing nails |
1.1% |
1/91 |
Sparse hair |
1.1% |
1/91 |
Sparse anterior scalp 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 bacterial infections |
1.3% |
1/79 |
Recurrent infections of the middle ear |
1.3% |
1/79 |
Recurrent otitis media |
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 |