Gender |
|
|
Male |
42.2% |
73/173 |
Female |
57.8% |
100/173 |
Indifferent |
0% |
0/173 |
Unknown |
0% |
0/173 |
General |
|
|
Birth Length abnormalities |
5.6% |
8/144 |
> P98 : Birth length greater than 97th percentile |
0.7% |
1/144 |
< P3 : Birth length less than 3rd percentile |
4.9% |
7/144 |
Birth Weight abnormalities |
13.3% |
22/165 |
< P3 : Small for gestational age |
13.3% |
22/165 |
Birth Head circumference abnormalities |
2.1% |
3/145 |
> P98 : Macrocephaly at birth |
2.1% |
3/145 |
Current Height abnormalities |
16.3% |
27/166 |
< P3 : Short stature |
15.7% |
26/166 |
> P98 : Tall stature |
0.6% |
1/166 |
Current Weight abnormalities |
8.8% |
14/160 |
< P3 : Decreased body weight |
8.1% |
13/160 |
> P98 : Increased body weight |
0.6% |
1/160 |
Current Head circumference abnormalities |
8.4% |
14/167 |
> P98 : Macrocephaly |
6.0% |
10/167 |
< P3 : Microcephaly |
2.4% |
4/167 |
Neurology |
|
|
Neurological abnormalities |
93.0% |
147/158 |
Generalized hypotonia |
72.2% |
114/158 |
Seizures |
35.4% |
56/158 |
EEG abnormality |
22.2% |
35/158 |
Generalized tonic-clonic seizures |
3.2% |
5/158 |
Speech apraxia |
3.2% |
5/158 |
Febrile seizures |
2.5% |
4/158 |
Absence seizures |
1.9% |
3/158 |
Dysarthria |
1.9% |
3/158 |
Global developmental delay |
1.9% |
3/158 |
Neonatal hypotonia |
1.9% |
3/158 |
Status epilepticus |
1.9% |
3/158 |
Delayed speech and language development |
1.3% |
2/158 |
Focal seizures |
1.3% |
2/158 |
Impaired pain sensation |
1.3% |
2/158 |
Unsteady gait |
1.3% |
2/158 |
Abnormality of the periventricular white matter |
0.6% |
1/158 |
Ankle clonus |
0.6% |
1/158 |
Apraxia |
0.6% |
1/158 |
Ataxia |
0.6% |
1/158 |
Atonic seizures |
0.6% |
1/158 |
Broad-based gait |
0.6% |
1/158 |
Communicating hydrocephalus |
0.6% |
1/158 |
Dysmetria |
0.6% |
1/158 |
EEG with focal sharp slow waves |
0.6% |
1/158 |
EEG with generalized epileptiform discharges |
0.6% |
1/158 |
Epileptiform EEG discharges |
0.6% |
1/158 |
Epileptic spasms |
0.6% |
1/158 |
Gait ataxia |
0.6% |
1/158 |
Generalized muscle weakness |
0.6% |
1/158 |
Generalized clonic seizures |
0.6% |
1/158 |
Hemiclonic seizures |
0.6% |
1/158 |
Hemiparesis |
0.6% |
1/158 |
Hypertonia |
0.6% |
1/158 |
Hypsarrhythmia |
0.6% |
1/158 |
Impaired visuospatial constructive cognition |
0.6% |
1/158 |
Inability to walk |
0.6% |
1/158 |
Infantile spasms |
0.6% |
1/158 |
Infantile muscular hypotonia |
0.6% |
1/158 |
Limb apraxia |
0.6% |
1/158 |
Lower limb hyperreflexia |
0.6% |
1/158 |
Medulloblastoma |
0.6% |
1/158 |
Moderate global developmental delay |
0.6% |
1/158 |
Muscle weakness |
0.6% |
1/158 |
Oromotor apraxia |
0.6% |
1/158 |
Severe muscular hypotonia |
0.6% |
1/158 |
Simple febrile seizures |
0.6% |
1/158 |
Tetraplegia |
0.6% |
1/158 |
Behavioral problems |
88.4% |
130/147 |
Overfriendliness |
53.1% |
78/147 |
Anxiety |
9.5% |
14/147 |
Abnormal social behavior |
8.8% |
13/147 |
Attention deficit hyperactivity disorder |
8.8% |
13/147 |
Global developmental delay |
8.8% |
13/147 |
Short attention span |
6.1% |
9/147 |
Autistic behavior |
5.4% |
8/147 |
Poor eye contact |
4.8% |
7/147 |
Hyperactivity |
4.1% |
6/147 |
Impaired social interactions |
2.7% |
4/147 |
Stereotypic behavior |
2.7% |
4/147 |
Impulsivity |
2.0% |
3/147 |
Inflexible adherence to routines or rituals |
2.0% |
3/147 |
Obsessive-compulsive behavior |
2.0% |
3/147 |
Aggressive behavior |
1.4% |
2/147 |
Behavioral abnormality |
1.4% |
2/147 |
Oppositional defiant disorder |
1.4% |
2/147 |
Perseveration |
1.4% |
2/147 |
Shyness |
1.4% |
2/147 |
Sleep disturbance |
1.4% |
2/147 |
Agitation |
0.7% |
1/147 |
Depression |
0.7% |
1/147 |
Eye poking |
0.7% |
1/147 |
Insomnia |
0.7% |
1/147 |
Irritability |
0.7% |
1/147 |
Phonophobia |
0.7% |
1/147 |
Polydipsia |
0.7% |
1/147 |
Psychosis |
0.7% |
1/147 |
Seizures |
0.7% |
1/147 |
Self-biting |
0.7% |
1/147 |
Brain abnormality |
61.4% |
62/101 |
Ventriculomegaly |
17.8% |
18/101 |
Aplasia/Hypoplasia of the corpus callosum |
7.9% |
8/101 |
Hydrocephalus |
5.9% |
6/101 |
Hypoplasia of the corpus callosum |
5.9% |
6/101 |
Agenesis of corpus callosum |
4.0% |
4/101 |
Dilation of lateral ventricles |
4.0% |
4/101 |
Delayed CNS myelination |
3.0% |
3/101 |
Perivascular spaces |
3.0% |
3/101 |
Abnormality of the cerebral ventricles |
2.0% |
2/101 |
Arnold-Chiari type I malformation |
2.0% |
2/101 |
Cerebral atrophy |
2.0% |
2/101 |
Cerebral white matter atrophy |
2.0% |
2/101 |
Choroid plexus cyst |
2.0% |
2/101 |
Dysplastic corpus callosum |
2.0% |
2/101 |
Abnormality of the corpus callosum |
1.0% |
1/101 |
Abnormality of the septum pellucidum |
1.0% |
1/101 |
Abnormality of the posterior cranial fossa |
1.0% |
1/101 |
Abnormality of the posterior pituitary |
1.0% |
1/101 |
Abnormality of lateral ventricle |
1.0% |
1/101 |
Abnormality of the periventricular white matter |
1.0% |
1/101 |
Abnormality of the cerebral white matter |
1.0% |
1/101 |
Abnormality of brain morphology |
1.0% |
1/101 |
Abnormality of the pituitary gland |
1.0% |
1/101 |
Abnormality of neuronal migration |
1.0% |
1/101 |
Anterior pituitary hypoplasia |
1.0% |
1/101 |
Cerebral hemorrhage |
1.0% |
1/101 |
Cerebellar hypoplasia |
1.0% |
1/101 |
Cervical cord compression |
1.0% |
1/101 |
Colpocephaly |
1.0% |
1/101 |
Communicating hydrocephalus |
1.0% |
1/101 |
Cranial nerve VI palsy |
1.0% |
1/101 |
Dolichocephaly |
1.0% |
1/101 |
Dural ectasia |
1.0% |
1/101 |
Enlarged cisterna magna |
1.0% |
1/101 |
Generalized cerebral atrophy/hypoplasia |
1.0% |
1/101 |
Gliosis |
1.0% |
1/101 |
Heterotopia |
1.0% |
1/101 |
Hydromyelia |
1.0% |
1/101 |
Intraventricular hemorrhage |
1.0% |
1/101 |
Macrocephaly |
1.0% |
1/101 |
Medulloblastoma |
1.0% |
1/101 |
Partial agenesis of the corpus callosum |
1.0% |
1/101 |
Periventricular white matter hypodensities |
1.0% |
1/101 |
Pineal cyst |
1.0% |
1/101 |
Spina bifida |
1.0% |
1/101 |
Syringomyelia |
1.0% |
1/101 |
Tethered cord |
1.0% |
1/101 |
Widened subarachnoid space |
1.0% |
1/101 |
Facial abnormalities |
|
|
Abnormality of the ear |
63.5% |
73/115 |
Protruding ear |
31.3% |
36/115 |
Macrotia |
27.0% |
31/115 |
Low-set ears |
20.9% |
24/115 |
Low-set, posteriorly rotated ears |
5.2% |
6/115 |
Microtia |
4.3% |
5/115 |
Cupped ear |
3.5% |
4/115 |
Preauricular pit |
1.7% |
2/115 |
Small earlobe |
1.7% |
2/115 |
Underdeveloped crus of the helix |
1.7% |
2/115 |
Abnormality of earlobe |
0.9% |
1/115 |
Abnormality of the pinna |
0.9% |
1/115 |
Abnormality of the helix |
0.9% |
1/115 |
Anteverted ears |
0.9% |
1/115 |
Darwin tubercle of helix |
0.9% |
1/115 |
Hypoplasia of the ear cartilage |
0.9% |
1/115 |
Large earlobe |
0.9% |
1/115 |
Overfolding of the superior helices |
0.9% |
1/115 |
Overfolded helix |
0.9% |
1/115 |
Posteriorly rotated ears |
0.9% |
1/115 |
Prominent ear helix |
0.9% |
1/115 |
Round ear |
0.9% |
1/115 |
Stenosis of the external auditory canal |
0.9% |
1/115 |
Thickened helices |
0.9% |
1/115 |
Thickened ears |
0.9% |
1/115 |
Underdeveloped superior crus of antihelix |
0.9% |
1/115 |
Abnormality of the eye |
90.2% |
111/123 |
Upslanted palpebral fissure |
49.6% |
61/123 |
Epicanthus |
44.7% |
55/123 |
Blepharophimosis |
26.8% |
33/123 |
Ptosis |
25.2% |
31/123 |
Hypertelorism |
13.8% |
17/123 |
Iris hypopigmentation |
13.0% |
16/123 |
Sparse eyebrow |
4.9% |
6/123 |
Deeply set eye |
4.1% |
5/123 |
Strabismus |
4.1% |
5/123 |
Astigmatism |
2.4% |
3/123 |
Hypermetropia |
1.6% |
2/123 |
Short palpebral fissure |
1.6% |
2/123 |
Telecanthus |
1.6% |
2/123 |
Abnormality of the lens |
0.8% |
1/123 |
Almond-shaped palpebral fissure |
0.8% |
1/123 |
Downslanted palpebral fissures |
0.8% |
1/123 |
Epicanthus inversus |
0.8% |
1/123 |
Esotropia |
0.8% |
1/123 |
Exotropia |
0.8% |
1/123 |
Facial hemangioma |
0.8% |
1/123 |
Infra-orbital crease |
0.8% |
1/123 |
Lacrimal duct stenosis |
0.8% |
1/123 |
Nystagmus |
0.8% |
1/123 |
Periorbital fullness |
0.8% |
1/123 |
Severe Myopia |
0.8% |
1/123 |
Small palpebral fissure |
0.8% |
1/123 |
Thick eyebrow |
0.8% |
1/123 |
Abnormality of the nose |
90.6% |
106/117 |
Bulbous nose |
69.2% |
81/117 |
Pear-shaped nose |
65.0% |
76/117 |
Underdeveloped nasal alae |
5.1% |
6/117 |
Low hanging columella |
4.3% |
5/117 |
Prominent nasal bridge |
4.3% |
5/117 |
Depressed nasal bridge |
3.4% |
4/117 |
Wide nasal base |
3.4% |
4/117 |
Anteverted nares |
2.6% |
3/117 |
Prominent nasal tip |
2.6% |
3/117 |
Thick nasal alae |
2.6% |
3/117 |
Broad columella |
1.7% |
2/117 |
Broad nasal tip |
1.7% |
2/117 |
Cleft ala nasi |
1.7% |
2/117 |
Prominent nose |
1.7% |
2/117 |
Wide nasal bridge |
1.7% |
2/117 |
Abnormality of the columella |
0.9% |
1/117 |
Abnormality of the external nose |
0.9% |
1/117 |
Long nose |
0.9% |
1/117 |
Narrow nose |
0.9% |
1/117 |
Short nose |
0.9% |
1/117 |
Wide nose |
0.9% |
1/117 |
Abnormality of the mouth |
89.0% |
138/155 |
Everted lower lip vermilion |
25.2% |
39/155 |
Drooling |
20.0% |
31/155 |
Chewing difficulties |
12.9% |
20/155 |
High, narrow palate |
11.0% |
17/155 |
Long philtrum |
10.3% |
16/155 |
High palate |
9.7% |
15/155 |
Open mouth |
9.7% |
15/155 |
Broad chin |
8.4% |
13/155 |
Macroglossia |
7.7% |
12/155 |
Deep philtrum |
7.1% |
11/155 |
Protruding tongue |
5.8% |
9/155 |
Reduced number of teeth |
5.8% |
9/155 |
Thin upper lip vermilion |
4.5% |
7/155 |
Cleft palate |
3.9% |
6/155 |
Microdontia |
3.9% |
6/155 |
Short philtrum |
3.9% |
6/155 |
Widely spaced teeth |
3.9% |
6/155 |
Tented upper lip vermilion |
3.2% |
5/155 |
Wide mouth |
3.2% |
5/155 |
Thick lower lip vermilion |
2.6% |
4/155 |
Thick vermilion border |
2.6% |
4/155 |
Ankyloglossia |
1.9% |
3/155 |
Conical tooth |
1.9% |
3/155 |
Mandibular prognathia |
1.9% |
3/155 |
Oral cleft |
1.9% |
3/155 |
Bilateral cleft lip and palate |
1.3% |
2/155 |
Broad philtrum |
1.3% |
2/155 |
Carious teeth |
1.3% |
2/155 |
Dental malocclusion |
1.3% |
2/155 |
Downturned corners of mouth |
1.3% |
2/155 |
Gingival overgrowth |
1.3% |
2/155 |
Hypoplasia of dental enamel |
1.3% |
2/155 |
Micrognathia |
1.3% |
2/155 |
Retrognathia |
1.3% |
2/155 |
Smooth philtrum |
1.3% |
2/155 |
Abnormal number of incisors |
0.6% |
1/155 |
Abnormality of the tongue |
0.6% |
1/155 |
Abnormality of the palate |
0.6% |
1/155 |
Abnormality of the lip |
0.6% |
1/155 |
Abnormality of oral frenula |
0.6% |
1/155 |
Abnormality of the gingiva |
0.6% |
1/155 |
Agenesis of maxillary incisor |
0.6% |
1/155 |
Agenesis of permanent teeth |
0.6% |
1/155 |
Agenesis of premolar |
0.6% |
1/155 |
Anterior open-bite malocclusion |
0.6% |
1/155 |
Bilateral cleft lip |
0.6% |
1/155 |
Cleft upper lip |
0.6% |
1/155 |
Conical incisor |
0.6% |
1/155 |
Conical maxillary incisor |
0.6% |
1/155 |
Diastema |
0.6% |
1/155 |
Everted upper lip vermilion |
0.6% |
1/155 |
Exaggerated median tongue furrow |
0.6% |
1/155 |
Hypodontia |
0.6% |
1/155 |
Overbite |
0.6% |
1/155 |
Thick upper lip vermilion |
0.6% |
1/155 |
Thin vermilion border |
0.6% |
1/155 |
Unilateral cleft lip |
0.6% |
1/155 |
Widely-spaced maxillary central incisors |
0.6% |
1/155 |
Visual and hearing impairments |
|
|
Abnormal hearing |
20.0% |
24/120 |
Hearing impairment |
9.2% |
11/120 |
Conductive hearing impairment |
1.7% |
2/120 |
Mild hearing impairment |
0.8% |
1/120 |
Mild conductive hearing impairment |
0.8% |
1/120 |
Moderate sensorineural hearing impairment |
0.8% |
1/120 |
Unilateral conductive hearing impairment |
0.8% |
1/120 |
Abnormal vision |
54.4% |
81/149 |
Hypermetropia |
20.8% |
31/149 |
Strabismus |
18.1% |
27/149 |
Visual impairment |
9.4% |
14/149 |
Esotropia |
2.0% |
3/149 |
Myopia |
2.0% |
3/149 |
Cortical visual impairment |
1.3% |
2/149 |
Exotropia |
1.3% |
2/149 |
Nystagmus |
1.3% |
2/149 |
Abnormal amplitude of dark-adapted bright flash electroretinogram |
0.7% |
1/149 |
Abnormality of macular pigmentation |
0.7% |
1/149 |
Abnormality of the optic disc |
0.7% |
1/149 |
Abnormal amplitude of dark-adapted dim flash electroretinogram |
0.7% |
1/149 |
Alternating esotropia |
0.7% |
1/149 |
Amblyopia |
0.7% |
1/149 |
Attenuation of retinal blood vessels |
0.7% |
1/149 |
Bone spicule pigmentation of the retina |
0.7% |
1/149 |
Cataract |
0.7% |
1/149 |
Chorioretinal coloboma |
0.7% |
1/149 |
Congenital cataract |
0.7% |
1/149 |
Macular scarring |
0.7% |
1/149 |
Macular dystrophy |
0.7% |
1/149 |
Optic atrophy |
0.7% |
1/149 |
Optic disc pallor |
0.7% |
1/149 |
Vitreous floaters |
0.7% |
1/149 |
Heart |
|
|
Abnormality of the heart |
37.0% |
50/135 |
Atria septal defect |
11.1% |
15/135 |
Ventricular septal defect |
6.7% |
9/135 |
Abnormality of the atrial septum |
3.0% |
4/135 |
Patent foramen ovale |
3.0% |
4/135 |
Abnormality of the ventricular septum |
2.2% |
3/135 |
Aortic dilatation |
2.2% |
3/135 |
Bicuspid aortic valve |
2.2% |
3/135 |
Mitral regurgitation |
2.2% |
3/135 |
Secundum atrial septal defect |
2.2% |
3/135 |
Tricuspid regurgitation |
2.2% |
3/135 |
Cardiomyopathy |
1.5% |
2/135 |
Heart murmur |
1.5% |
2/135 |
Muscular ventricular septal defect |
1.5% |
2/135 |
Patent ductus arteriosus |
1.5% |
2/135 |
Abnormality of the systemic arterial tree |
0.7% |
1/135 |
Abnormality of the pulmonary veins |
0.7% |
1/135 |
Dysplastic aortic valve |
0.7% |
1/135 |
Dysplastic pulmonary valve |
0.7% |
1/135 |
Hypertension |
0.7% |
1/135 |
Mitral valve prolapse |
0.7% |
1/135 |
Prolonged QT interval |
0.7% |
1/135 |
Right ventricular dilatation |
0.7% |
1/135 |
Right atrial enlargement |
0.7% |
1/135 |
Tachypnea |
0.7% |
1/135 |
Ventricular aneurysm |
0.7% |
1/135 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
70.1% |
89/127 |
Feeding difficulties |
52.0% |
66/127 |
Gastroesophageal reflux |
9.4% |
12/127 |
Tracheomalacia |
7.9% |
10/127 |
Poor suck |
6.3% |
8/127 |
Constipation |
3.9% |
5/127 |
Inguinal hernia |
3.9% |
5/127 |
Umbilical hernia |
2.4% |
3/127 |
Chronic constipation |
1.6% |
2/127 |
Dysphagia |
1.6% |
2/127 |
Anal fistula |
0.8% |
1/127 |
Chewing difficulties |
0.8% |
1/127 |
Drooling |
0.8% |
1/127 |
Elevated hepatic transaminases |
0.8% |
1/127 |
Episodic vomiting |
0.8% |
1/127 |
Feeding difficulties in infancy |
0.8% |
1/127 |
Intestinal malrotation |
0.8% |
1/127 |
Laryngomalacia |
0.8% |
1/127 |
Pyloric stenosis |
0.8% |
1/127 |
Urogenital |
|
|
Abnormality of the urogenital system |
49.6% |
65/131 |
Cryptorchidism |
12.2% |
16/131 |
Hydronephrosis |
9.2% |
12/131 |
Vesicoureteral reflux |
6.9% |
9/131 |
Bilateral cryptorchidism |
4.6% |
6/131 |
Fetal pyelectasis |
3.1% |
4/131 |
Renal duplication |
3.1% |
4/131 |
Micropenis |
2.3% |
3/131 |
Dilatation of the renal pelvis |
1.5% |
2/131 |
Scrotal hypoplasia |
1.5% |
2/131 |
Ureteropelvic junction obstruction |
1.5% |
2/131 |
Abnormality of the bladder |
0.8% |
1/131 |
Enuresis nocturna |
0.8% |
1/131 |
Enuresis diurna |
0.8% |
1/131 |
Hypospadias |
0.8% |
1/131 |
Macroorchidism |
0.8% |
1/131 |
Multicystic kidney dysplasia |
0.8% |
1/131 |
Phimosis |
0.8% |
1/131 |
Polyuria |
0.8% |
1/131 |
Pyelonephritis |
0.8% |
1/131 |
Retractile testis |
0.8% |
1/131 |
Scrotal hypospadias |
0.8% |
1/131 |
Shawl scrotum |
0.8% |
1/131 |
Unilateral cryptorchidism |
0.8% |
1/131 |
Ureterocele |
0.8% |
1/131 |
Urinary incontinence |
0.8% |
1/131 |
Skeleton |
|
|
Skeletal abnormalities |
81.6% |
111/136 |
Joint laxity |
33.8% |
46/136 |
Pes planus |
16.9% |
23/136 |
Arachnodactyly |
16.2% |
22/136 |
Scoliosis |
11.0% |
15/136 |
Slender build |
10.3% |
14/136 |
Narrow palm |
8.1% |
11/136 |
Abnormality of the curvature of the vertebral column |
7.4% |
10/136 |
Hip dysplasia |
7.4% |
10/136 |
Pectus excavatum |
7.4% |
10/136 |
Abnormality of the musculature of the hand |
5.1% |
7/136 |
Positional foot deformity |
5.1% |
7/136 |
Abnormality of the hip joint |
3.7% |
5/136 |
Hip dislocation |
3.7% |
5/136 |
Lower limb asymmetry |
3.7% |
5/136 |
Pes cavus |
3.7% |
5/136 |
Shield chest |
3.7% |
5/136 |
Hallux valgus |
2.9% |
4/136 |
Joint hypermobility |
2.9% |
4/136 |
Kyphosis |
2.9% |
4/136 |
Broad thumb |
2.2% |
3/136 |
Dolichocephaly |
2.2% |
3/136 |
Genu valgum |
2.2% |
3/136 |
Short neck |
2.2% |
3/136 |
Talipes equinovarus |
2.2% |
3/136 |
Abnormality of the sternum |
1.5% |
2/136 |
Abnormality of the lower limb |
1.5% |
2/136 |
Bilateral talipes equinovarus |
1.5% |
2/136 |
Broad hallux |
1.5% |
2/136 |
Calcaneovalgus deformity |
1.5% |
2/136 |
Cervical spinal canal stenosis |
1.5% |
2/136 |
Clinodactyly of the 5th finger |
1.5% |
2/136 |
Clinodactyly |
1.5% |
2/136 |
Cubitus valgus |
1.5% |
2/136 |
Deviation of toes |
1.5% |
2/136 |
Generalized joint laxity |
1.5% |
2/136 |
Large hands |
1.5% |
2/136 |
Long fingers |
1.5% |
2/136 |
Long toe |
1.5% |
2/136 |
Long foot |
1.5% |
2/136 |
Multiple joint dislocation |
1.5% |
2/136 |
Spondylolisthesis |
1.5% |
2/136 |
Thoracic scoliosis |
1.5% |
2/136 |
Thoracolumbar scoliosis |
1.5% |
2/136 |
Abnormality of the thorax |
0.7% |
1/136 |
Abnormal number of vertebrae |
0.7% |
1/136 |
Abnormality of toe |
0.7% |
1/136 |
Ankle contracture |
0.7% |
1/136 |
Arthropathy |
0.7% |
1/136 |
Asymmetry of the thorax |
0.7% |
1/136 |
Bifid distal phalanx of the thumb |
0.7% |
1/136 |
Bilateral wrist flexion contracture |
0.7% |
1/136 |
Brachycephaly |
0.7% |
1/136 |
Broad neck |
0.7% |
1/136 |
Camptodactyly |
0.7% |
1/136 |
Clubbing of toes |
0.7% |
1/136 |
Congenital bilateral hip dislocation |
0.7% |
1/136 |
Congenital hip dislocation |
0.7% |
1/136 |
Decreased muscle mass |
0.7% |
1/136 |
Delayed skeletal maturation |
0.7% |
1/136 |
Delayed tarsal ossification |
0.7% |
1/136 |
Digital flexor tenosynovitis |
0.7% |
1/136 |
Disproportionate tall stature |
0.7% |
1/136 |
Elbow flexion contracture |
0.7% |
1/136 |
Finger joint hypermobility |
0.7% |
1/136 |
Fused cervical vertebrae |
0.7% |
1/136 |
Fused lumbar vertebrae |
0.7% |
1/136 |
Fused thoracic vertebrae |
0.7% |
1/136 |
Hammertoe |
0.7% |
1/136 |
Herniation of intervertebral nuclei |
0.7% |
1/136 |
Hip Subluxation |
0.7% |
1/136 |
Hyperextensibility at wrists |
0.7% |
1/136 |
Hyperlordosis |
0.7% |
1/136 |
Increased laxity of fingers |
0.7% |
1/136 |
Joint hyperflexibility |
0.7% |
1/136 |
Juvenile rheumatoid arthritis |
0.7% |
1/136 |
Knee flexion contracture |
0.7% |
1/136 |
Knee dislocation |
0.7% |
1/136 |
Limb joint contracture |
0.7% |
1/136 |
Limb undergrowth |
0.7% |
1/136 |
Long thorax |
0.7% |
1/136 |
Long palm |
0.7% |
1/136 |
Lumbar hyperlordosis |
0.7% |
1/136 |
Mandibular prognathia |
0.7% |
1/136 |
Metopic synostosis |
0.7% |
1/136 |
Narrow foot |
0.7% |
1/136 |
Narrow chest |
0.7% |
1/136 |
Overlapping toe |
0.7% |
1/136 |
Pectus carinatum |
0.7% |
1/136 |
Prominent metopic ridge |
0.7% |
1/136 |
Prominent fingertip pads |
0.7% |
1/136 |
Recurrent fractures |
0.7% |
1/136 |
Sagittal craniosynostosis |
0.7% |
1/136 |
Sandal gap |
0.7% |
1/136 |
Scapular winging |
0.7% |
1/136 |
Short femur |
0.7% |
1/136 |
Short middle phalanx of finger |
0.7% |
1/136 |
Short distal phalanx of finger |
0.7% |
1/136 |
Shoulder dislocation |
0.7% |
1/136 |
Slender finger |
0.7% |
1/136 |
Talipes valgus |
0.7% |
1/136 |
Trigonocephaly |
0.7% |
1/136 |
Ulnar deviation of the wrist |
0.7% |
1/136 |
Valgus foot deformity |
0.7% |
1/136 |
Widened distal phalanges |
0.7% |
1/136 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
78.6% |
110/140 |
Nevus |
10.7% |
15/140 |
Fair hair |
7.1% |
10/140 |
Dental malocclusion |
5.7% |
8/140 |
Dry skin |
5.7% |
8/140 |
Sacral dimple |
5.7% |
8/140 |
Hypopigmentation of the skin |
5.0% |
7/140 |
Soft skin |
5.0% |
7/140 |
Thick hair |
5.0% |
7/140 |
Wide intermamillary distance |
5.0% |
7/140 |
Abnormality of hair pigmentation |
4.3% |
6/140 |
Eczema |
4.3% |
6/140 |
Fine hair |
4.3% |
6/140 |
Hypodontia |
4.3% |
6/140 |
Cafe-au-lait spot |
3.6% |
5/140 |
Sparse hair |
3.6% |
5/140 |
Abnormality of the hair |
2.9% |
4/140 |
Abnormality of skin pigmentation |
2.9% |
4/140 |
Hyperextensible skin |
2.9% |
4/140 |
Acne |
2.1% |
3/140 |
Brittle hair |
2.1% |
3/140 |
Curly hair |
2.1% |
3/140 |
Dry hair |
2.1% |
3/140 |
Single transverse palmar crease |
2.1% |
3/140 |
Vitiligo |
2.1% |
3/140 |
Abnormality of hair texture |
1.4% |
2/140 |
Bilateral single transverse palmar creases |
1.4% |
2/140 |
Coarse hair |
1.4% |
2/140 |
Hyperkeratosis |
1.4% |
2/140 |
Ichthyosis |
1.4% |
2/140 |
Inverted nipples |
1.4% |
2/140 |
Numerous nevi |
1.4% |
2/140 |
Shoulder dimples |
1.4% |
2/140 |
Silver-gray hair |
1.4% |
2/140 |
Abnormality of the nail |
0.7% |
1/140 |
Abnormality of hair growth |
0.7% |
1/140 |
Abnormal elasticity of skin |
0.7% |
1/140 |
Alopecia |
0.7% |
1/140 |
Aplasia cutis congenita of scalp |
0.7% |
1/140 |
Aplasia cutis congenita over the scalp vertex |
0.7% |
1/140 |
Atrophic, patchy alopecia |
0.7% |
1/140 |
Atrophic scars |
0.7% |
1/140 |
Bifid nail |
0.7% |
1/140 |
Bruising susceptibility |
0.7% |
1/140 |
Cutis laxa |
0.7% |
1/140 |
Cyanosis |
0.7% |
1/140 |
Deep palmar crease |
0.7% |
1/140 |
Fragile nails |
0.7% |
1/140 |
Hyperpigmentation of the skin |
0.7% |
1/140 |
Hyperkeratosis pilaris |
0.7% |
1/140 |
Hypohidrosis |
0.7% |
1/140 |
Localized hirsutism |
0.7% |
1/140 |
Low anterior hairline |
0.7% |
1/140 |
Melanocytic nevus |
0.7% |
1/140 |
Milia |
0.7% |
1/140 |
Multiple palmar creases |
0.7% |
1/140 |
Multiple cafe-au-lait spots |
0.7% |
1/140 |
Nail dystrophy |
0.7% |
1/140 |
Skin dimples |
0.7% |
1/140 |
Soft, doughy skin |
0.7% |
1/140 |
Sparse anterior scalp hair |
0.7% |
1/140 |
Uncombable hair |
0.7% |
1/140 |
Webbed neck |
0.7% |
1/140 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
8.7% |
9/104 |
Growth hormone deficiency |
3.8% |
4/104 |
Gonadotropin deficiency |
1.0% |
1/104 |
Hypothyroidism |
1.0% |
1/104 |
Precocious puberty |
1.0% |
1/104 |
Primary adrenal insufficiency |
1.0% |
1/104 |
Abnormality of the metabolic system |
7.8% |
8/103 |
Neonatal hyperbilirubinemia |
1.9% |
2/103 |
Neonatal hypoglycemia |
1.9% |
2/103 |
Abnormality of circulating enzyme level |
1.0% |
1/103 |
Anemia |
1.0% |
1/103 |
Decreased activity of mitochondrial complex I |
1.0% |
1/103 |
Hypoglycemia |
1.0% |
1/103 |
Abnormality of the immune system |
41.4% |
46/111 |
Recurrent otitis media |
6.3% |
7/111 |
Recurrent respiratory infections |
4.5% |
5/111 |
Recurrent urinary tract infections |
4.5% |
5/111 |
Asthma |
3.6% |
4/111 |
Recurrent infections |
3.6% |
4/111 |
Recurrent upper respiratory tract infections |
3.6% |
4/111 |
Neutropenia |
2.7% |
3/111 |
Recurrent pneumonia |
2.7% |
3/111 |
Recurrent infections of the middle ear |
2.7% |
3/111 |
Chronic otitis media |
1.8% |
2/111 |
Recurrent bronchitis |
1.8% |
2/111 |
Aspiration pneumonia |
0.9% |
1/111 |
Bronchitis |
0.9% |
1/111 |
Bruising susceptibility |
0.9% |
1/111 |
Easy fatigability |
0.9% |
1/111 |
Recurrent cystitis |
0.9% |
1/111 |
Sepsis |
0.9% |
1/111 |
Neoplasia |
|
|
Neoplasia |
9.6% |
10/104 |
Hemangioma |
2.9% |
3/104 |
Gait disturbance |
1.0% |
1/104 |
Gait ataxia |
1.0% |
1/104 |
Medulloblastoma |
1.0% |
1/104 |
Melanoma |
1.0% |
1/104 |
Testicular neoplasm |
1.0% |
1/104 |
Verrucae |
1.0% |
1/104 |