Gender |
|
|
Male |
56.1% |
83/148 |
Female |
43.9% |
65/148 |
General |
|
|
Birth Length abnormalities |
11.5% |
18/157 |
< P3 : Birth length less than 3rd percentile |
10.2% |
16/157 |
> P98 : Birth length greater than 97th percentile |
1.3% |
2/157 |
Birth Weight abnormalities |
17.3% |
28/162 |
> P98 : Large for gestational age |
0.6% |
1/162 |
< P3 : Small for gestational age |
16.7% |
27/162 |
Birth Head circumference abnormalities |
8.9% |
14/157 |
< P3 : Congenital microcephaly |
7.6% |
12/157 |
> P98 : Macrocephaly at birth |
1.3% |
2/157 |
Current Height abnormalities |
42.5% |
71/167 |
< P3 : Short stature |
40.7% |
68/167 |
> P98 : Tall stature |
1.8% |
3/167 |
Current Weight abnormalities |
20.6% |
33/160 |
> P98 : Increased body weight |
6.3% |
10/160 |
< P3 : Decreased body weight |
14.4% |
23/160 |
Current Head circumference abnormalities |
14.2% |
23/162 |
< P3 : Microcephaly |
12.3% |
20/162 |
> P98 : Macrocephaly |
1.9% |
3/162 |
Neurology |
|
|
Neurological abnormalities |
51.1% |
69/135 |
Seizures |
14.1% |
19/135 |
Global developmental delay |
10.4% |
14/135 |
Generalized hypotonia |
8.9% |
12/135 |
Generalized tonic-clonic seizures |
8.1% |
11/135 |
Poor coordination |
8.1% |
11/135 |
Absence seizures |
6.7% |
9/135 |
Mild global developmental delay |
4.4% |
6/135 |
Delayed speech and language development |
3.7% |
5/135 |
Focal seizures |
3.7% |
5/135 |
Febrile seizures |
3.0% |
4/135 |
Generalized seizures |
3.0% |
4/135 |
Migraine |
3.0% |
4/135 |
Motor delay |
3.0% |
4/135 |
Pain insensitivity |
3.0% |
4/135 |
Delayed gross motor development |
2.2% |
3/135 |
Gait imbalance |
2.2% |
3/135 |
Generalized myoclonic seizures |
2.2% |
3/135 |
Memory impairment |
2.2% |
3/135 |
Migraine with aura |
2.2% |
3/135 |
Poor fine motor coordination |
2.2% |
3/135 |
Ataxia |
1.5% |
2/135 |
Atonic seizures |
1.5% |
2/135 |
Cerebral palsy |
1.5% |
2/135 |
Delayed fine motor development |
1.5% |
2/135 |
Dysarthria |
1.5% |
2/135 |
Dyslexia |
1.5% |
2/135 |
Expressive language delay |
1.5% |
2/135 |
Gait disturbance |
1.5% |
2/135 |
Generalized tonic seizures |
1.5% |
2/135 |
Generalized neonatal hypotonia |
1.5% |
2/135 |
Hand tremor |
1.5% |
2/135 |
Impaired pain sensation |
1.5% |
2/135 |
Intellectual disability |
1.5% |
2/135 |
Intellectual disability, mild |
1.5% |
2/135 |
Muscular hypotonia |
1.5% |
2/135 |
Syncope |
1.5% |
2/135 |
Unilateral strabismus |
1.5% |
2/135 |
Vertigo |
1.5% |
2/135 |
Abnormal muscle tone |
0.7% |
1/135 |
Abnormality of fontanelles |
0.7% |
1/135 |
Abnormality of pain sensation |
0.7% |
1/135 |
Abnormality of the temporomandibular joint |
0.7% |
1/135 |
Abnormality of the vestibular nerve |
0.7% |
1/135 |
Absent speech |
0.7% |
1/135 |
Anterior pituitary hypoplasia |
0.7% |
1/135 |
Anxiety |
0.7% |
1/135 |
Attention deficit hyperactivity disorder |
0.7% |
1/135 |
Brain atrophy |
0.7% |
1/135 |
Broad-based gait |
0.7% |
1/135 |
Central apnea |
0.7% |
1/135 |
Central hypotonia |
0.7% |
1/135 |
Delayed social development |
0.7% |
1/135 |
Delayed closure of the anterior fontanelle |
0.7% |
1/135 |
Dementia |
0.7% |
1/135 |
Dyscalculia |
0.7% |
1/135 |
Dysgraphia |
0.7% |
1/135 |
Dysphagia |
0.7% |
1/135 |
EEG abnormality |
0.7% |
1/135 |
EEG with generalized polymorphic epileptiform discharges |
0.7% |
1/135 |
EEG with generalized epileptiform discharges |
0.7% |
1/135 |
Facial hypotonia |
0.7% |
1/135 |
Focal seizures with impairment of consciousness or awareness |
0.7% |
1/135 |
Focal tonic seizures |
0.7% |
1/135 |
Focal myoclonic seizures |
0.7% |
1/135 |
Frequent falls |
0.7% |
1/135 |
Gait ataxia |
0.7% |
1/135 |
Gelastic seizures |
0.7% |
1/135 |
Generalized clonic seizures |
0.7% |
1/135 |
Headache |
0.7% |
1/135 |
High pitched voice |
0.7% |
1/135 |
Hyperextensibility of the knee |
0.7% |
1/135 |
Impaired tactile sensation |
0.7% |
1/135 |
Impaired distal tactile sensation |
0.7% |
1/135 |
Increased intracranial pressure |
0.7% |
1/135 |
Infantile muscular hypotonia |
0.7% |
1/135 |
Joint hypermobility |
0.7% |
1/135 |
Kinetic tremor |
0.7% |
1/135 |
Limb dystonia |
0.7% |
1/135 |
Moderate global developmental delay |
0.7% |
1/135 |
Muscular hypotonia of the trunk |
0.7% |
1/135 |
Myoclonus |
0.7% |
1/135 |
Myokymia |
0.7% |
1/135 |
Neonatal hypotonia |
0.7% |
1/135 |
Paresthesia |
0.7% |
1/135 |
Polymorphic focal epileptiform discharges |
0.7% |
1/135 |
Poor suck |
0.7% |
1/135 |
Poor eye contact |
0.7% |
1/135 |
Poor motor coordination |
0.7% |
1/135 |
Short attention span |
0.7% |
1/135 |
Shuffling gait |
0.7% |
1/135 |
Shyness |
0.7% |
1/135 |
Sleep disturbance |
0.7% |
1/135 |
Sleep myoclonus |
0.7% |
1/135 |
Slowed slurred speech |
0.7% |
1/135 |
Spastic diplegia |
0.7% |
1/135 |
Specific learning disability |
0.7% |
1/135 |
Speech articulation difficulties |
0.7% |
1/135 |
Synovitis |
0.7% |
1/135 |
Tachypnea |
0.7% |
1/135 |
Tethered cord |
0.7% |
1/135 |
Truncal ataxia |
0.7% |
1/135 |
Behavioral problems |
86.5% |
109/126 |
Attention deficit hyperactivity disorder |
34.9% |
44/126 |
Autism |
32.5% |
41/126 |
Anxiety |
15.1% |
19/126 |
Short attention span |
13.5% |
17/126 |
Delayed speech and language development |
9.5% |
12/126 |
Obsessive-compulsive behavior |
9.5% |
12/126 |
Aggressive behavior |
8.7% |
11/126 |
Impaired social interactions |
8.7% |
11/126 |
Impulsivity |
7.9% |
10/126 |
Autistic behavior |
5.6% |
7/126 |
Oppositional defiant disorder |
4.8% |
6/126 |
Abnormal aggressive, impulsive or violent behavior |
4.0% |
5/126 |
Behavioral abnormality |
4.0% |
5/126 |
Hyperactivity |
4.0% |
5/126 |
Repetitive compulsive behavior |
4.0% |
5/126 |
Global developmental delay |
3.2% |
4/126 |
Mild global developmental delay |
3.2% |
4/126 |
Poor eye contact |
3.2% |
4/126 |
Recurrent hand flapping |
3.2% |
4/126 |
Abnormal emotion/affect behavior |
2.4% |
3/126 |
Autism with high cognitive abilities |
2.4% |
3/126 |
Developmental regression |
2.4% |
3/126 |
Expressive language delay |
2.4% |
3/126 |
Inappropriate sexual behavior |
2.4% |
3/126 |
Self-injurious behavior |
2.4% |
3/126 |
Sensory impairment |
2.4% |
3/126 |
Specific learning disability |
2.4% |
3/126 |
Absent speech |
1.6% |
2/126 |
Delayed gross motor development |
1.6% |
2/126 |
Depression |
1.6% |
2/126 |
Inflexible adherence to routines or rituals |
1.6% |
2/126 |
Intellectual disability, mild |
1.6% |
2/126 |
Irritability |
1.6% |
2/126 |
Receptive language delay |
1.6% |
2/126 |
Restlessness |
1.6% |
2/126 |
Stereotypic behavior |
1.6% |
2/126 |
Tics |
1.6% |
2/126 |
Violent behavior |
1.6% |
2/126 |
Abnormal social behavior |
0.8% |
1/126 |
Abnormal eating behavior |
0.8% |
1/126 |
Abnormal fear/anxiety-related behavior |
0.8% |
1/126 |
Apathy |
0.8% |
1/126 |
Cognitive impairment |
0.8% |
1/126 |
Decreased facial expression |
0.8% |
1/126 |
Delayed fine motor development |
0.8% |
1/126 |
Dyslexia |
0.8% |
1/126 |
Emotional lability |
0.8% |
1/126 |
Enuresis nocturna |
0.8% |
1/126 |
Inappropriate behavior |
0.8% |
1/126 |
Insomnia |
0.8% |
1/126 |
Intellectual disability, moderate |
0.8% |
1/126 |
Low frustration tolerance |
0.8% |
1/126 |
Moderate global developmental delay |
0.8% |
1/126 |
Motor delay |
0.8% |
1/126 |
No social interaction |
0.8% |
1/126 |
Pain insensitivity |
0.8% |
1/126 |
Pica |
0.8% |
1/126 |
Poor gross motor coordination |
0.8% |
1/126 |
Precocious puberty |
0.8% |
1/126 |
Psychosis |
0.8% |
1/126 |
Self-biting |
0.8% |
1/126 |
Sensory neuropathy |
0.8% |
1/126 |
Severe expressive language delay |
0.8% |
1/126 |
Shyness |
0.8% |
1/126 |
Sleep disturbance |
0.8% |
1/126 |
Slurred speech |
0.8% |
1/126 |
Tongue thrusting |
0.8% |
1/126 |
Brain abnormality |
26.9% |
25/93 |
EEG abnormality |
5.4% |
5/93 |
Brain atrophy |
3.2% |
3/93 |
Arachnoid cyst |
2.2% |
2/93 |
Heterotopia |
2.2% |
2/93 |
Abnormality of the sella turcica |
1.1% |
1/93 |
Abnormal length of corpus callosum |
1.1% |
1/93 |
Abnormality of brain morphology |
1.1% |
1/93 |
Abnormality of the spinal cord |
1.1% |
1/93 |
Aplasia/Hypoplasia of the corpus callosum |
1.1% |
1/93 |
Aplasia/Hypoplasia of the cerebellar vermis |
1.1% |
1/93 |
Ataxia |
1.1% |
1/93 |
Cerebellar hypoplasia |
1.1% |
1/93 |
Choroid plexus cyst |
1.1% |
1/93 |
Colpocephaly |
1.1% |
1/93 |
Deformed sella turcica |
1.1% |
1/93 |
Delayed CNS myelination |
1.1% |
1/93 |
Delayed closure of the anterior fontanelle |
1.1% |
1/93 |
Dysplastic corpus callosum |
1.1% |
1/93 |
Hydrocephalus |
1.1% |
1/93 |
Macrocephaly |
1.1% |
1/93 |
Meningitis |
1.1% |
1/93 |
Microcephaly |
1.1% |
1/93 |
Optic nerve hypoplasia |
1.1% |
1/93 |
Perivascular spaces |
1.1% |
1/93 |
Pineal cyst |
1.1% |
1/93 |
Posterior fossa cyst |
1.1% |
1/93 |
Retrocerebellar cyst |
1.1% |
1/93 |
Small pituitary gland |
1.1% |
1/93 |
Subdural hemorrhage |
1.1% |
1/93 |
Ventriculomegaly |
1.1% |
1/93 |
Facial abnormalities |
|
|
Abnormality of the ear |
52.9% |
72/136 |
Protruding ear |
23.5% |
32/136 |
Macrotia |
22.1% |
30/136 |
Low-set ears |
10.3% |
14/136 |
Large fleshy ears |
3.7% |
5/136 |
Large earlobe |
2.9% |
4/136 |
Anteverted ears |
2.2% |
3/136 |
Low-set, posteriorly rotated ears |
2.2% |
3/136 |
Preauricular skin tag |
2.2% |
3/136 |
Uplifted earlobe |
2.2% |
3/136 |
Abnormality of earlobe |
1.5% |
2/136 |
Abnormality of the pinna |
1.5% |
2/136 |
Attached earlobe |
1.5% |
2/136 |
Bilateral conductive hearing impairment |
1.5% |
2/136 |
Chronic otitis media |
1.5% |
2/136 |
Periauricular skin pits |
1.5% |
2/136 |
Posteriorly rotated ears |
1.5% |
2/136 |
Preauricular pit |
1.5% |
2/136 |
Abnormality of the helix |
0.7% |
1/136 |
Abnormality of the antihelix |
0.7% |
1/136 |
Abnormality of the Eustachian tube |
0.7% |
1/136 |
Abnormality of the tympanic membrane |
0.7% |
1/136 |
Aplasia/Hypoplasia of the external ear |
0.7% |
1/136 |
Asymmetry of the ears |
0.7% |
1/136 |
Blocked Eustachian tube |
0.7% |
1/136 |
Cholesteatoma |
0.7% |
1/136 |
Conductive hearing impairment |
0.7% |
1/136 |
Cupped ear |
0.7% |
1/136 |
Hypoplastic helices |
0.7% |
1/136 |
Long eyelashes |
0.7% |
1/136 |
Prominent eyelashes |
0.7% |
1/136 |
Prominent antihelix |
0.7% |
1/136 |
Prominent ear helix |
0.7% |
1/136 |
Recurrent otitis media |
0.7% |
1/136 |
Recurrent infections |
0.7% |
1/136 |
Skin dimples |
0.7% |
1/136 |
Thickened helices |
0.7% |
1/136 |
Abnormality of the eye |
60.3% |
82/136 |
Hypertelorism |
17.6% |
24/136 |
Long eyelashes |
16.9% |
23/136 |
Synophrys |
14.0% |
19/136 |
Thick eyebrow |
13.2% |
18/136 |
Strabismus |
5.9% |
8/136 |
Upslanted palpebral fissure |
5.1% |
7/136 |
Amblyopia |
3.7% |
5/136 |
Anteverted nares |
3.7% |
5/136 |
Downslanted palpebral fissures |
3.7% |
5/136 |
Large eyes |
2.9% |
4/136 |
Long eyebrows |
2.9% |
4/136 |
Prominent eyelashes |
2.9% |
4/136 |
Highly arched eyebrow |
2.2% |
3/136 |
Myopia |
2.2% |
3/136 |
Abnormality of vision |
1.5% |
2/136 |
Abnormal eye morphology |
1.5% |
2/136 |
Astigmatism |
1.5% |
2/136 |
Epicanthus |
1.5% |
2/136 |
Horizontal eyebrow |
1.5% |
2/136 |
Long palpebral fissure |
1.5% |
2/136 |
Nystagmus |
1.5% |
2/136 |
Prominent epicanthal folds |
1.5% |
2/136 |
Short palpebral fissure |
1.5% |
2/136 |
Unilateral strabismus |
1.5% |
2/136 |
Abnormal shape of the palpebral fissure |
0.7% |
1/136 |
Abnormality of the palpebral fissures |
0.7% |
1/136 |
Abnormality of the cornea |
0.7% |
1/136 |
Abnormality of the conjunctiva |
0.7% |
1/136 |
Abnormality of the eyelashes |
0.7% |
1/136 |
Abnormality of the eyelid |
0.7% |
1/136 |
Almond-shaped palpebral fissure |
0.7% |
1/136 |
Bilateral ptosis |
0.7% |
1/136 |
Blepharitis |
0.7% |
1/136 |
Congenital strabismus |
0.7% |
1/136 |
Congenital nystagmus |
0.7% |
1/136 |
Congenital bilateral ptosis |
0.7% |
1/136 |
Deeply set eye |
0.7% |
1/136 |
Difficulty adjusting from dark to light |
0.7% |
1/136 |
Entropion |
0.7% |
1/136 |
Esotropia |
0.7% |
1/136 |
Exotropia |
0.7% |
1/136 |
Hyperopic astigmatism |
0.7% |
1/136 |
Hypotelorism |
0.7% |
1/136 |
Iris coloboma |
0.7% |
1/136 |
Lacrimal duct aplasia |
0.7% |
1/136 |
Nasolacrimal duct obstruction |
0.7% |
1/136 |
Proptosis |
0.7% |
1/136 |
Ptosis |
0.7% |
1/136 |
Sparse eyelashes |
0.7% |
1/136 |
Telecanthus |
0.7% |
1/136 |
Abnormality of the nose |
75.9% |
104/137 |
Abnormality of the nose |
33.6% |
46/137 |
Bulbous nose |
24.1% |
33/137 |
Wide nasal bridge |
21.2% |
29/137 |
Anteverted nares |
19.0% |
26/137 |
Prominent nasal bridge |
14.6% |
20/137 |
Wide nasal base |
10.9% |
15/137 |
Prominent nasal tip |
10.2% |
14/137 |
Broad nasal tip |
7.3% |
10/137 |
Wide nose |
2.9% |
4/137 |
Depressed nasal bridge |
2.2% |
3/137 |
Abnormality of the nasal tip |
1.5% |
2/137 |
Long philtrum |
1.5% |
2/137 |
Short nose |
1.5% |
2/137 |
Abnormal nasal base |
0.7% |
1/137 |
Abnormal size of nasopharyngeal adenoids |
0.7% |
1/137 |
Abnormality of the nasal bridge |
0.7% |
1/137 |
Absent nasal bridge |
0.7% |
1/137 |
Bulbous tips of toes |
0.7% |
1/137 |
Choanal atresia |
0.7% |
1/137 |
Chronic sinusitis |
0.7% |
1/137 |
Deviated nasal septum |
0.7% |
1/137 |
Hypertelorism |
0.7% |
1/137 |
Hypoplastic frontal sinuses |
0.7% |
1/137 |
Hypoplastic nasal bridge |
0.7% |
1/137 |
Short columella |
0.7% |
1/137 |
Thin anteverted nares |
0.7% |
1/137 |
Abnormality of the mouth |
93.5% |
130/139 |
Macrodontia |
41.7% |
58/139 |
Thin upper lip vermilion |
11.5% |
16/139 |
Thin vermilion border |
10.1% |
14/139 |
Macrodontia of permanent maxillary central incisor |
8.6% |
12/139 |
Long philtrum |
7.2% |
10/139 |
Carious teeth |
6.5% |
9/139 |
Exaggerated cupid's bow |
6.5% |
9/139 |
High palate |
6.5% |
9/139 |
Incisor macrodontia |
5.8% |
8/139 |
Abnormality of upper lip vermillion |
4.3% |
6/139 |
Dental crowding |
4.3% |
6/139 |
Wide mouth |
4.3% |
6/139 |
Abnormality of dental enamel |
3.6% |
5/139 |
Abnormality of the teeth |
3.6% |
5/139 |
Tented upper lip vermilion |
3.6% |
5/139 |
Thick vermilion border |
3.6% |
5/139 |
Dental malocclusion |
2.9% |
4/139 |
Persistence of primary teeth |
2.9% |
4/139 |
Retrognathia |
2.9% |
4/139 |
Tented philtrum |
2.9% |
4/139 |
Thick lower lip vermilion |
2.9% |
4/139 |
Ankyloglossia |
2.2% |
3/139 |
High, narrow palate |
2.2% |
3/139 |
Abnormality of the philtrum |
1.4% |
2/139 |
Bifid uvula |
1.4% |
2/139 |
Hypodontia |
1.4% |
2/139 |
Misalignment of teeth |
1.4% |
2/139 |
Narrow palate |
1.4% |
2/139 |
Open bite |
1.4% |
2/139 |
Tongue thrusting |
1.4% |
2/139 |
Velopharyngeal insufficiency |
1.4% |
2/139 |
Abnormality of the maxilla |
0.7% |
1/139 |
Abnormality of dental morphology |
0.7% |
1/139 |
Abnormality of the hard palate |
0.7% |
1/139 |
Abnormality of oral frenula |
0.7% |
1/139 |
Abnormality of the soft palate |
0.7% |
1/139 |
Abnormality of the palate |
0.7% |
1/139 |
Abnormal number of teeth |
0.7% |
1/139 |
Abnormality of lower lip |
0.7% |
1/139 |
Abnormal number of permanent teeth |
0.7% |
1/139 |
Abnormal jaw morphology |
0.7% |
1/139 |
Broad philtrum |
0.7% |
1/139 |
Cleft soft palate |
0.7% |
1/139 |
Deep philtrum |
0.7% |
1/139 |
Delayed eruption of teeth |
0.7% |
1/139 |
Dental enamel pits |
0.7% |
1/139 |
Hypoplasia of teeth |
0.7% |
1/139 |
Jaw ankylosis |
0.7% |
1/139 |
Long upper lip |
0.7% |
1/139 |
Macrotia |
0.7% |
1/139 |
Micrognathia |
0.7% |
1/139 |
Narrow jaw |
0.7% |
1/139 |
Overbite |
0.7% |
1/139 |
Premature loss of teeth |
0.7% |
1/139 |
Premature loss of primary teeth |
0.7% |
1/139 |
Rotated maxillary central incisors |
0.7% |
1/139 |
Short lingual frenulum |
0.7% |
1/139 |
Taurodontia |
0.7% |
1/139 |
Triangular mouth |
0.7% |
1/139 |
Trismus |
0.7% |
1/139 |
Unilateral cleft lip |
0.7% |
1/139 |
U-Shaped upper lip vermilion |
0.7% |
1/139 |
Yellow-brown discoloration of the teeth |
0.7% |
1/139 |
Visual and hearing impairments |
|
|
Abnormal hearing |
49.3% |
69/140 |
Conductive hearing impairment |
12.9% |
18/140 |
Hearing impairment |
10.7% |
15/140 |
Bilateral conductive hearing impairment |
8.6% |
12/140 |
Abnormality of the Eustachian tube |
2.9% |
4/140 |
Bilateral sensorineural hearing impairment |
2.9% |
4/140 |
Hearing abnormality |
2.1% |
3/140 |
Mixed hearing impairment |
2.1% |
3/140 |
Otitis media |
2.1% |
3/140 |
Abnormality of the tympanic membrane |
1.4% |
2/140 |
Mild hearing impairment |
1.4% |
2/140 |
Sensorineural hearing impairment |
1.4% |
2/140 |
Stenosis of the Eustachian tube |
1.4% |
2/140 |
Apnea |
0.7% |
1/140 |
Enlarged vestibular aqueduct |
0.7% |
1/140 |
Impacted cerumen |
0.7% |
1/140 |
Low-frequency hearing loss |
0.7% |
1/140 |
Recurrent otitis media |
0.7% |
1/140 |
Unilateral deafness |
0.7% |
1/140 |
Abnormal vision |
58.6% |
78/133 |
Astigmatism |
16.5% |
22/133 |
Myopia |
15.0% |
20/133 |
Strabismus |
13.5% |
18/133 |
Hypermetropia |
11.3% |
15/133 |
Amblyopia |
7.5% |
10/133 |
Abnormality of vision |
6.0% |
8/133 |
Visual impairment |
4.5% |
6/133 |
Hyperopic astigmatism |
3.0% |
4/133 |
Anisometropia |
2.3% |
3/133 |
Nystagmus |
2.3% |
3/133 |
Blurred vision |
1.5% |
2/133 |
Unilateral strabismus |
1.5% |
2/133 |
Cataract |
0.8% |
1/133 |
Congenital bilateral ptosis |
0.8% |
1/133 |
Cortical visual impairment |
0.8% |
1/133 |
Difficulty adjusting from dark to light |
0.8% |
1/133 |
Esotropia |
0.8% |
1/133 |
Horizontal nystagmus |
0.8% |
1/133 |
Intermediate uveitis |
0.8% |
1/133 |
Peripheral visual field loss |
0.8% |
1/133 |
Heart |
|
|
Abnormality of the heart |
26.2% |
37/141 |
Ventricular septal defect |
9.2% |
13/141 |
Atria septal defect |
5.7% |
8/141 |
Patent foramen ovale |
4.3% |
6/141 |
Heart murmur |
3.5% |
5/141 |
Abnormality of the mitral valve |
2.1% |
3/141 |
Aortic aneurysm |
1.4% |
2/141 |
Bicuspid aortic valve |
1.4% |
2/141 |
Mitral regurgitation |
1.4% |
2/141 |
Pericardial effusion |
1.4% |
2/141 |
Persistent left superior vena cava |
1.4% |
2/141 |
Abnormality of the coronary arteries |
0.7% |
1/141 |
Abnormality of the endocardium |
0.7% |
1/141 |
Abnormality of the atrial septum |
0.7% |
1/141 |
Abnormal heart morphology |
0.7% |
1/141 |
Abnormality of the heart valves |
0.7% |
1/141 |
Abnormality of cardiac atrium |
0.7% |
1/141 |
Abnormality of the aortic valve |
0.7% |
1/141 |
Arrhythmia |
0.7% |
1/141 |
Atrial fibrillation |
0.7% |
1/141 |
Atrioventricular canal defect |
0.7% |
1/141 |
Bradycardia |
0.7% |
1/141 |
Cardiomegaly |
0.7% |
1/141 |
Cardiac arrest |
0.7% |
1/141 |
Coarctation of aorta |
0.7% |
1/141 |
Dilated cardiomyopathy |
0.7% |
1/141 |
Exercise intolerance |
0.7% |
1/141 |
Patent ductus arteriosus after birth at term |
0.7% |
1/141 |
Primum atrial septal defect |
0.7% |
1/141 |
Sinus tachycardia |
0.7% |
1/141 |
Tetralogy of Fallot |
0.7% |
1/141 |
Tetralogy of Fallot with pulmonary stenosis |
0.7% |
1/141 |
Pulmonary |
|
|
Abnormality of the lungs |
5.1% |
4/79 |
Asthma |
3.8% |
3/79 |
Pulmonary hypoplasia |
1.3% |
1/79 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
51.7% |
75/145 |
Feeding difficulties |
26.2% |
38/145 |
Gastroesophageal reflux |
17.9% |
26/145 |
Feeding difficulties in infancy |
12.4% |
18/145 |
Constipation |
8.3% |
12/145 |
Vomiting |
7.6% |
11/145 |
Nasogastric tube feeding in infancy |
4.8% |
7/145 |
Abdominal pain |
3.4% |
5/145 |
Chronic constipation |
3.4% |
5/145 |
Episodic vomiting |
3.4% |
5/145 |
Dysphagia |
2.8% |
4/145 |
Poor suck |
2.8% |
4/145 |
Gastrostomy tube feeding in infancy |
2.1% |
3/145 |
Diarrhea |
1.4% |
2/145 |
Hiatus hernia |
1.4% |
2/145 |
Inguinal hernia |
1.4% |
2/145 |
Projectile vomiting |
1.4% |
2/145 |
Abdominal colic |
0.7% |
1/145 |
Abdominal distention |
0.7% |
1/145 |
Aspiration |
0.7% |
1/145 |
Bowel urgency |
0.7% |
1/145 |
Bowel incontinence |
0.7% |
1/145 |
Celiac disease |
0.7% |
1/145 |
Chewing difficulties |
0.7% |
1/145 |
Chronic diarrhea |
0.7% |
1/145 |
Chylothorax |
0.7% |
1/145 |
Crohn's disease |
0.7% |
1/145 |
Delayed self-feeding during toddler years |
0.7% |
1/145 |
Episodic abdominal pain |
0.7% |
1/145 |
Esophagitis |
0.7% |
1/145 |
Exocrine pancreatic insufficiency |
0.7% |
1/145 |
Food intolerance |
0.7% |
1/145 |
Gastroparesis |
0.7% |
1/145 |
Gastrointestinal obstruction |
0.7% |
1/145 |
Hernia |
0.7% |
1/145 |
Hypoglycemia |
0.7% |
1/145 |
Intestinal malrotation |
0.7% |
1/145 |
Nausea |
0.7% |
1/145 |
Nausea and vomiting |
0.7% |
1/145 |
Oral aversion |
0.7% |
1/145 |
Poor appetite |
0.7% |
1/145 |
Rectal prolapse |
0.7% |
1/145 |
Recurrent candida infections |
0.7% |
1/145 |
Umbilical hernia |
0.7% |
1/145 |
Weight loss |
0.7% |
1/145 |
Urogenital |
|
|
Abnormality of the urogenital system |
30.7% |
42/137 |
Cryptorchidism |
12.4% |
17/137 |
Hypospadias |
2.9% |
4/137 |
Recurrent urinary tract infections |
2.9% |
4/137 |
Inguinal hernia |
2.2% |
3/137 |
Abnormality of the renal collecting system |
1.5% |
2/137 |
Abnormality of the kidney |
1.5% |
2/137 |
Bilateral cryptorchidism |
1.5% |
2/137 |
Abnormality of the urethra |
0.7% |
1/137 |
Abnormality of the bladder |
0.7% |
1/137 |
Benign prostatic hyperplasia |
0.7% |
1/137 |
Congenital absence of foreskin |
0.7% |
1/137 |
Enuresis nocturna |
0.7% |
1/137 |
Enuresis diurna |
0.7% |
1/137 |
Enuresis |
0.7% |
1/137 |
Functional abnormality of the bladder |
0.7% |
1/137 |
Hydronephrosis |
0.7% |
1/137 |
Hydrocele testis |
0.7% |
1/137 |
Infertility |
0.7% |
1/137 |
Phimosis |
0.7% |
1/137 |
Pollakisuria |
0.7% |
1/137 |
Polycystic ovaries |
0.7% |
1/137 |
Polyuria |
0.7% |
1/137 |
Testicular torsion |
0.7% |
1/137 |
Unilateral cryptorchidism |
0.7% |
1/137 |
Urinary incontinence |
0.7% |
1/137 |
Vesicoureteral reflux |
0.7% |
1/137 |
Skeleton |
|
|
Skeletal abnormalities |
86.1% |
124/144 |
Pes planus |
18.1% |
26/144 |
Short stature |
14.6% |
21/144 |
Clinodactyly of the 5th finger |
13.2% |
19/144 |
Delayed skeletal maturation |
13.2% |
19/144 |
Scoliosis |
13.2% |
19/144 |
Brachydactyly syndrome |
9.0% |
13/144 |
Brachycephaly |
8.3% |
12/144 |
Clinodactyly |
6.9% |
10/144 |
Generalized hypotonia |
5.6% |
8/144 |
Hip dysplasia |
5.6% |
8/144 |
Kyphosis |
4.9% |
7/144 |
Sacral dimple |
4.9% |
7/144 |
Small hand |
4.9% |
7/144 |
Large fontanelles |
4.2% |
6/144 |
Macrocephaly |
4.2% |
6/144 |
Pectus excavatum |
4.2% |
6/144 |
Abnormality of the ribs |
3.5% |
5/144 |
2-3 toe syndactyly |
3.5% |
5/144 |
Muscular hypotonia |
2.8% |
4/144 |
Short 5th finger |
2.8% |
4/144 |
Abnormality of the hip joint |
2.1% |
3/144 |
Abnormality of the hand |
2.1% |
3/144 |
Kyphoscoliosis |
2.1% |
3/144 |
Microcephaly |
2.1% |
3/144 |
Mild short stature |
2.1% |
3/144 |
Plagiocephaly |
2.1% |
3/144 |
Sandal gap |
2.1% |
3/144 |
Short foot |
2.1% |
3/144 |
Toe clinodactyly |
2.1% |
3/144 |
Abnormality of the thumb |
1.4% |
2/144 |
Abnormality of the anterior fontanelle |
1.4% |
2/144 |
Abnormality of the foot |
1.4% |
2/144 |
Abnormality of the hallux |
1.4% |
2/144 |
Abnormality of the ankles |
1.4% |
2/144 |
Achilles tendon contracture |
1.4% |
2/144 |
Cervical kyphosis |
1.4% |
2/144 |
Cervical ribs |
1.4% |
2/144 |
Delayed cranial suture closure |
1.4% |
2/144 |
Delayed closure of the anterior fontanelle |
1.4% |
2/144 |
Dysharmonic delayed bone age |
1.4% |
2/144 |
Flat occiput |
1.4% |
2/144 |
Generalized osteoporosis |
1.4% |
2/144 |
Lumbar hyperlordosis |
1.4% |
2/144 |
Muscular hypotonia of the trunk |
1.4% |
2/144 |
Osteopenia |
1.4% |
2/144 |
Severe short stature |
1.4% |
2/144 |
Single transverse palmar crease |
1.4% |
2/144 |
Thoracic kyphosis |
1.4% |
2/144 |
Toe walking |
1.4% |
2/144 |
Unilateral brachydactyly |
1.4% |
2/144 |
Wide anterior fontanel |
1.4% |
2/144 |
Abnormality of the middle phalanx of the 2nd finger |
0.7% |
1/144 |
Abnormality of the femur |
0.7% |
1/144 |
Abnormal axial skeleton morphology |
0.7% |
1/144 |
Abnormal form of the vertebral bodies |
0.7% |
1/144 |
Abnormal bone ossification |
0.7% |
1/144 |
Abnormal morphology of bones of the lower limbs |
0.7% |
1/144 |
Abnormality of the 5th finger |
0.7% |
1/144 |
Abnormality of the thorax |
0.7% |
1/144 |
Abnormal joint morphology |
0.7% |
1/144 |
Abnormality of the vertebrae |
0.7% |
1/144 |
Abnormality of the palmar creases |
0.7% |
1/144 |
Abnormality of the middle phalanx of the 5th finger |
0.7% |
1/144 |
Abnormality of the vertebral endplates |
0.7% |
1/144 |
Abnormality of the rib cage |
0.7% |
1/144 |
Abnormality of the vertebral column |
0.7% |
1/144 |
Abnormal tendon morphology |
0.7% |
1/144 |
Abnormality of the hip bone |
0.7% |
1/144 |
Ankle clonus |
0.7% |
1/144 |
Aplasia/Hypoplasia of the maxilla |
0.7% |
1/144 |
Aplasia/Hypoplasia of the middle phalanges of the hand |
0.7% |
1/144 |
Avascular necrosis of the capital femoral epiphysis |
0.7% |
1/144 |
Back pain |
0.7% |
1/144 |
Bilateral single transverse palmar creases |
0.7% |
1/144 |
Bone cyst |
0.7% |
1/144 |
Broad palm |
0.7% |
1/144 |
Broad forehead |
0.7% |
1/144 |
Broad toe |
0.7% |
1/144 |
Camptodactyly of finger |
0.7% |
1/144 |
Camptodactyly |
0.7% |
1/144 |
Central hypotonia |
0.7% |
1/144 |
Clinodactyly of the 5th toe |
0.7% |
1/144 |
Congenital hip dislocation |
0.7% |
1/144 |
Coxa valga |
0.7% |
1/144 |
Craniosynostosis |
0.7% |
1/144 |
Curved fingers |
0.7% |
1/144 |
Dolichocephaly |
0.7% |
1/144 |
Down-sloping shoulders |
0.7% |
1/144 |
Finger joint hypermobility |
0.7% |
1/144 |
Flattened moderately deformed vertebrae |
0.7% |
1/144 |
Gait ataxia |
0.7% |
1/144 |
Gait disturbance |
0.7% |
1/144 |
Hallux varus |
0.7% |
1/144 |
Hypermobility of toe joints |
0.7% |
1/144 |
Hyperlordosis |
0.7% |
1/144 |
Hypocalcemia |
0.7% |
1/144 |
Increased susceptibility to fractures |
0.7% |
1/144 |
Intrauterine growth retardation |
0.7% |
1/144 |
Joint contracture of the hand |
0.7% |
1/144 |
Limb joint contracture |
0.7% |
1/144 |
Limited pronation/supination of forearm |
0.7% |
1/144 |
Lower thoracic kyphosis |
0.7% |
1/144 |
Lower limb pain |
0.7% |
1/144 |
Lumbar scoliosis |
0.7% |
1/144 |
Metatarsus adductus |
0.7% |
1/144 |
Multiple palmar creases |
0.7% |
1/144 |
Osteochondritis Dissecans |
0.7% |
1/144 |
Painless fractures due to injury |
0.7% |
1/144 |
Patellar dislocation |
0.7% |
1/144 |
Pectus carinatum |
0.7% |
1/144 |
Pelvic bone asymmetry |
0.7% |
1/144 |
Persistent open anterior fontanelle |
0.7% |
1/144 |
Postaxial hand polydactyly |
0.7% |
1/144 |
Proportionate short stature |
0.7% |
1/144 |
Pseudoepiphyses of second metacarpal |
0.7% |
1/144 |
Sacralization of the fifth lumbar vertebra |
0.7% |
1/144 |
Scapular winging |
0.7% |
1/144 |
Short hallux |
0.7% |
1/144 |
Shortening of all middle phalanges of the fingers |
0.7% |
1/144 |
Short finger |
0.7% |
1/144 |
Short toe |
0.7% |
1/144 |
Short humerus |
0.7% |
1/144 |
Short digit |
0.7% |
1/144 |
Short lower limbs |
0.7% |
1/144 |
Shortening of all distal phalanges of the fingers |
0.7% |
1/144 |
Short palm |
0.7% |
1/144 |
Shortening of all proximal phalanges of the fingers |
0.7% |
1/144 |
Small for gestational age |
0.7% |
1/144 |
Spina bifida occulta |
0.7% |
1/144 |
Syndactyly |
0.7% |
1/144 |
Tapered finger |
0.7% |
1/144 |
Tethered cord |
0.7% |
1/144 |
Thoracolumbar scoliosis |
0.7% |
1/144 |
Tibial torsion |
0.7% |
1/144 |
Toe syndactyly |
0.7% |
1/144 |
Trigonocephaly |
0.7% |
1/144 |
Unsteady gait |
0.7% |
1/144 |
Upper limb undergrowth |
0.7% |
1/144 |
Wormian bones |
0.7% |
1/144 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
38.6% |
54/140 |
Abnormality of the skin |
15.7% |
22/140 |
Low anterior hairline |
6.4% |
9/140 |
Single transverse palmar crease |
2.9% |
4/140 |
Coarse hair |
2.1% |
3/140 |
Dry skin |
2.1% |
3/140 |
Dystrophic toenail |
2.1% |
3/140 |
Eczema |
2.1% |
3/140 |
Fingernail dysplasia |
2.1% |
3/140 |
Hyperkeratosis pilaris |
2.1% |
3/140 |
Macrodontia of permanent maxillary central incisor |
2.1% |
3/140 |
Cutis marmorata |
1.4% |
2/140 |
Facial hirsutism |
1.4% |
2/140 |
Hirsutism |
1.4% |
2/140 |
Inverted nipples |
1.4% |
2/140 |
Low posterior hairline |
1.4% |
2/140 |
Psoriasis |
1.4% |
2/140 |
Abnormality of dental eruption |
0.7% |
1/140 |
Abnormality of the palmar creases |
0.7% |
1/140 |
Abnormality of the scalp |
0.7% |
1/140 |
Abnormality of the fingernails |
0.7% |
1/140 |
Abnormality of the frontal hairline |
0.7% |
1/140 |
Abnormal hair whorl |
0.7% |
1/140 |
Abnormality of the nipple |
0.7% |
1/140 |
Abnormality of the nail |
0.7% |
1/140 |
Absent toenail |
0.7% |
1/140 |
Acne |
0.7% |
1/140 |
Atopic dermatitis |
0.7% |
1/140 |
Atypical scarring of skin |
0.7% |
1/140 |
Cafe-au-lait spot |
0.7% |
1/140 |
Cellulitis |
0.7% |
1/140 |
Clinodactyly of the 5th finger |
0.7% |
1/140 |
Cyst of the eyelid |
0.7% |
1/140 |
Dental malocclusion |
0.7% |
1/140 |
Fine hair |
0.7% |
1/140 |
Frontal upsweep of hair |
0.7% |
1/140 |
Hypertrichosis |
0.7% |
1/140 |
Increased number of teeth |
0.7% |
1/140 |
Multiple plantar creases |
0.7% |
1/140 |
Nevus |
0.7% |
1/140 |
Prominent eyelashes |
0.7% |
1/140 |
Recurrent fungal infections |
0.7% |
1/140 |
Sacral dimple |
0.7% |
1/140 |
Small nail |
0.7% |
1/140 |
Sparse hair |
0.7% |
1/140 |
Sparse anterior scalp hair |
0.7% |
1/140 |
Thick hair |
0.7% |
1/140 |
Thin skin |
0.7% |
1/140 |
Umbilical hernia |
0.7% |
1/140 |
Urticaria |
0.7% |
1/140 |
Vitiligo |
0.7% |
1/140 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
13.3% |
18/135 |
Growth hormone deficiency |
4.4% |
6/135 |
Precocious puberty in females |
1.5% |
2/135 |
Abnormal glucose homeostasis |
0.7% |
1/135 |
Abnormality of folate metabolism |
0.7% |
1/135 |
Adrenal insufficiency |
0.7% |
1/135 |
Decreased serum insulin-like growth factor 1 |
0.7% |
1/135 |
Diabetes mellitus |
0.7% |
1/135 |
Dysharmonic delayed bone age |
0.7% |
1/135 |
Facial hirsutism |
0.7% |
1/135 |
Fatigue |
0.7% |
1/135 |
Generalized osteoporosis |
0.7% |
1/135 |
Generalized hirsutism |
0.7% |
1/135 |
Hirsutism |
0.7% |
1/135 |
Hyperglycemia |
0.7% |
1/135 |
Hypoglycemia |
0.7% |
1/135 |
Hypohidrotic ectodermal dysplasia |
0.7% |
1/135 |
Increased circulating ACTH level |
0.7% |
1/135 |
Juvenile rheumatoid arthritis |
0.7% |
1/135 |
Menstrual irregularities |
0.7% |
1/135 |
Neonatal hypoglycemia |
0.7% |
1/135 |
Polydipsia |
0.7% |
1/135 |
Polyuria |
0.7% |
1/135 |
Short stature |
0.7% |
1/135 |
Small pituitary gland |
0.7% |
1/135 |
Thyroid-stimulating hormone excess |
0.7% |
1/135 |
Abnormality of the metabolic system |
20.0% |
28/140 |
Slender build |
4.3% |
6/140 |
Abnormality of temperature regulation |
3.6% |
5/140 |
Failure to thrive |
2.9% |
4/140 |
Pain insensitivity |
2.9% |
4/140 |
Sleep disturbance |
2.9% |
4/140 |
Chronic fatigue |
2.1% |
3/140 |
Failure to thrive in infancy |
2.1% |
3/140 |
Impaired pain sensation |
2.1% |
3/140 |
Abnormality of body weight |
1.4% |
2/140 |
Anemia |
1.4% |
2/140 |
Apnea |
1.4% |
2/140 |
Abnormality of copper homeostasis |
0.7% |
1/140 |
Abnormality of alkaline phosphatase activity |
0.7% |
1/140 |
Abnormal platelet function |
0.7% |
1/140 |
Abnormality of pain sensation |
0.7% |
1/140 |
Absence of subcutaneous fat |
0.7% |
1/140 |
Aspiration |
0.7% |
1/140 |
Asthma |
0.7% |
1/140 |
Bruising susceptibility |
0.7% |
1/140 |
Congenital diaphragmatic hernia |
0.7% |
1/140 |
Cyanotic episode |
0.7% |
1/140 |
Edema |
0.7% |
1/140 |
Erythrocyte macrocytosis |
0.7% |
1/140 |
Generalized edema |
0.7% |
1/140 |
Hamstring contractures |
0.7% |
1/140 |
Hyperbilirubinemia |
0.7% |
1/140 |
Impaired temperature sensation |
0.7% |
1/140 |
Inguinal hernia |
0.7% |
1/140 |
Iron deficiency anemia |
0.7% |
1/140 |
Jaundice |
0.7% |
1/140 |
Neonatal respiratory distress |
0.7% |
1/140 |
Postnatal growth retardation |
0.7% |
1/140 |
Prolonged neonatal jaundice |
0.7% |
1/140 |
Pulmonary edema |
0.7% |
1/140 |
Reduced factor VII activity |
0.7% |
1/140 |
Sleep apnea |
0.7% |
1/140 |
Small for gestational age |
0.7% |
1/140 |
Umbilical hernia |
0.7% |
1/140 |
Weight loss |
0.7% |
1/140 |
Abnormality of the immune system |
17.2% |
23/134 |
Allergy |
3.0% |
4/134 |
Recurrent otitis media |
3.0% |
4/134 |
Recurrent infections in infancy and early childhood |
1.5% |
2/134 |
Recurrent sinusitis |
1.5% |
2/134 |
Sinusitis |
1.5% |
2/134 |
Abnormal size of nasopharyngeal adenoids |
0.7% |
1/134 |
Abnormality of cellular immune system |
0.7% |
1/134 |
Abnormality of T cells |
0.7% |
1/134 |
Abnormality of B cells |
0.7% |
1/134 |
Abnormal immunoglobulin level |
0.7% |
1/134 |
Allergic rhinitis |
0.7% |
1/134 |
Celiac disease |
0.7% |
1/134 |
Cellular immunodeficiency |
0.7% |
1/134 |
Chronic sinusitis |
0.7% |
1/134 |
Cow milk allergy |
0.7% |
1/134 |
Episodic fever |
0.7% |
1/134 |
Esophagitis |
0.7% |
1/134 |
Immunodeficiency |
0.7% |
1/134 |
Increased size of nasopharyngeal adenoids |
0.7% |
1/134 |
Juvenile rheumatoid arthritis |
0.7% |
1/134 |
Leukopenia |
0.7% |
1/134 |
Lymphopenia |
0.7% |
1/134 |
Pancytopenia |
0.7% |
1/134 |
Pneumonia |
0.7% |
1/134 |
Psoriasis |
0.7% |
1/134 |
Recurrent infections |
0.7% |
1/134 |
Recurrent upper respiratory tract infections |
0.7% |
1/134 |
Rheumatoid arthritis |
0.7% |
1/134 |
Seasonal allergy |
0.7% |
1/134 |