| Gender |
|
|
| Male |
90.7% |
39/43 |
| Female |
9.3% |
4/43 |
| General |
|
|
| Birth Length abnormalities |
22.2% |
10/45 |
| < P3 : Birth length less than 3rd percentile |
22.2% |
10/45 |
| Birth Weight abnormalities |
22.2% |
10/45 |
| < P3 : Small for gestational age |
22.2% |
10/45 |
| Birth Head circumference abnormalities |
22.2% |
10/45 |
| < P3 : Congenital microcephaly |
20.0% |
9/45 |
| > P98 : Macrocephaly at birth |
2.2% |
1/45 |
| Current Height abnormalities |
26.7% |
12/45 |
| < P3 : Short stature |
26.7% |
12/45 |
| Current Weight abnormalities |
20.0% |
9/45 |
| < P3 : Decreased body weight |
20.0% |
9/45 |
| Current Head circumference abnormalities |
56.8% |
25/44 |
| < P3 : Microcephaly |
54.5% |
24/44 |
| > P98 : Macrocephaly |
2.3% |
1/44 |
| Neurology |
|
|
| Neurological abnormalities |
97.7% |
42/43 |
| Global developmental delay |
44.2% |
19/43 |
| Motor delay |
41.9% |
18/43 |
| Generalized hypotonia |
39.5% |
17/43 |
| Delayed speech and language development |
34.9% |
15/43 |
| Seizures |
25.6% |
11/43 |
| Gait disturbance |
16.3% |
7/43 |
| Intellectual disability, severe |
16.3% |
7/43 |
| Delayed fine motor development |
14.0% |
6/43 |
| Absent speech |
11.6% |
5/43 |
| Moderate global developmental delay |
11.6% |
5/43 |
| Intellectual disability |
9.3% |
4/43 |
| Intellectual disability, mild |
9.3% |
4/43 |
| Growth delay |
7.0% |
3/43 |
| Intellectual disability, profound |
7.0% |
3/43 |
| Intellectual disability, moderate |
7.0% |
3/43 |
| Unsteady gait |
7.0% |
3/43 |
| Aplasia/Hypoplasia of the corpus callosum |
4.7% |
2/43 |
| Autistic behavior |
4.7% |
2/43 |
| Developmental regression |
4.7% |
2/43 |
| Gait imbalance |
4.7% |
2/43 |
| Hydrocephalus |
4.7% |
2/43 |
| Mild global developmental delay |
4.7% |
2/43 |
| Moderate postnatal growth retardation |
4.7% |
2/43 |
| Muscular hypotonia |
4.7% |
2/43 |
| Plagiocephaly |
4.7% |
2/43 |
| Poor fine motor coordination |
4.7% |
2/43 |
| Severe global developmental delay |
4.7% |
2/43 |
| Abnormality of joint mobility |
2.3% |
1/43 |
| Abnormality of mucopolysaccharide metabolism |
2.3% |
1/43 |
| Abnormal muscle tone |
2.3% |
1/43 |
| Absence seizures |
2.3% |
1/43 |
| Anxiety |
2.3% |
1/43 |
| Ataxia |
2.3% |
1/43 |
| Autism |
2.3% |
1/43 |
| Central hypotonia |
2.3% |
1/43 |
| Cortical gyral simplification |
2.3% |
1/43 |
| Drooling |
2.3% |
1/43 |
| Facial hypotonia |
2.3% |
1/43 |
| Failure to thrive in infancy |
2.3% |
1/43 |
| Febrile seizures |
2.3% |
1/43 |
| Finger joint hypermobility |
2.3% |
1/43 |
| Frontal venous angioma |
2.3% |
1/43 |
| Generalized seizures |
2.3% |
1/43 |
| Generalized joint laxity |
2.3% |
1/43 |
| Hyperactive deep tendon reflexes |
2.3% |
1/43 |
| Hyperkinesis |
2.3% |
1/43 |
| Hypoplasia of the vestibular nerve |
2.3% |
1/43 |
| Hypoplasia of the corpus callosum |
2.3% |
1/43 |
| Impaired visuospatial constructive cognition |
2.3% |
1/43 |
| Increased laxity of fingers |
2.3% |
1/43 |
| Joint laxity |
2.3% |
1/43 |
| Joint hypermobility |
2.3% |
1/43 |
| Joint hyperflexibility |
2.3% |
1/43 |
| Lower limb hypertonia |
2.3% |
1/43 |
| Microcephaly |
2.3% |
1/43 |
| Migraine |
2.3% |
1/43 |
| Mild fetal ventriculomegaly |
2.3% |
1/43 |
| Neurodegeneration |
2.3% |
1/43 |
| Oral aversion |
2.3% |
1/43 |
| Partial absence of the septum pellucidum |
2.3% |
1/43 |
| Poor coordination |
2.3% |
1/43 |
| Profound global developmental delay |
2.3% |
1/43 |
| Progressive spastic quadriplegia |
2.3% |
1/43 |
| Progressive distal muscular atrophy |
2.3% |
1/43 |
| Retrocerebellar cyst |
2.3% |
1/43 |
| Severe expressive language delay |
2.3% |
1/43 |
| Shuffling gait |
2.3% |
1/43 |
| Spastic diplegia |
2.3% |
1/43 |
| Speech articulation difficulties |
2.3% |
1/43 |
| Ventriculomegaly |
2.3% |
1/43 |
| Behavioral problems |
83.8% |
31/37 |
| Absent speech |
35.1% |
13/37 |
| Delayed speech and language development |
27.0% |
10/37 |
| Autistic behavior |
24.3% |
9/37 |
| Autism |
21.6% |
8/37 |
| Recurrent hand flapping |
13.5% |
5/37 |
| Repetitive compulsive behavior |
13.5% |
5/37 |
| Self-injurious behavior |
13.5% |
5/37 |
| Aggressive behavior |
8.1% |
3/37 |
| Intellectual disability, moderate |
8.1% |
3/37 |
| Low frustration tolerance |
8.1% |
3/37 |
| Self-biting |
8.1% |
3/37 |
| Short attention span |
8.1% |
3/37 |
| Anxiety |
5.4% |
2/37 |
| Drooling |
5.4% |
2/37 |
| Global developmental delay |
5.4% |
2/37 |
| Speech apraxia |
5.4% |
2/37 |
| Abnormal aggressive, impulsive or violent behavior |
2.7% |
1/37 |
| Attention deficit hyperactivity disorder |
2.7% |
1/37 |
| Bowel incontinence |
2.7% |
1/37 |
| Bruxism |
2.7% |
1/37 |
| Delayed social development |
2.7% |
1/37 |
| Developmental regression |
2.7% |
1/37 |
| Echolalia |
2.7% |
1/37 |
| Epileptiform EEG discharges |
2.7% |
1/37 |
| Intellectual disability |
2.7% |
1/37 |
| Irritability |
2.7% |
1/37 |
| Mood swings |
2.7% |
1/37 |
| Mood changes |
2.7% |
1/37 |
| Poor eye contact |
2.7% |
1/37 |
| Restrictive behavior |
2.7% |
1/37 |
| Self-mutilation |
2.7% |
1/37 |
| Sensory impairment |
2.7% |
1/37 |
| Sleep apnea |
2.7% |
1/37 |
| Sleep disturbance |
2.7% |
1/37 |
| Specific learning disability |
2.7% |
1/37 |
| Speech articulation difficulties |
2.7% |
1/37 |
| Stereotypic behavior |
2.7% |
1/37 |
| Violent behavior |
2.7% |
1/37 |
| Brain abnormality |
78.1% |
25/32 |
| Microcephaly |
18.8% |
6/32 |
| Aplasia/Hypoplasia of the corpus callosum |
15.6% |
5/32 |
| Ventriculomegaly |
15.6% |
5/32 |
| Abnormality of the cerebral ventricles |
9.4% |
3/32 |
| Abnormal myelination |
9.4% |
3/32 |
| Hypoplasia of the corpus callosum |
9.4% |
3/32 |
| Abnormality of the periventricular white matter |
6.3% |
2/32 |
| Absent septum pellucidum |
6.3% |
2/32 |
| Abnormal CNS myelination |
3.1% |
1/32 |
| Abnormality of the cerebral white matter |
3.1% |
1/32 |
| Agenesis of cerebellar vermis |
3.1% |
1/32 |
| Agenesis of corpus callosum |
3.1% |
1/32 |
| Aplasia of the falx cerebri |
3.1% |
1/32 |
| Aplasia/Hypoplasia of the cerebellar vermis |
3.1% |
1/32 |
| Aplasia/Hypoplasia of the optic nerve |
3.1% |
1/32 |
| Cerebellar gliosis |
3.1% |
1/32 |
| Cerebellar atrophy |
3.1% |
1/32 |
| Cerebral white matter atrophy |
3.1% |
1/32 |
| Cortical gyral simplification |
3.1% |
1/32 |
| Deformed sella turcica |
3.1% |
1/32 |
| Delayed myelination |
3.1% |
1/32 |
| EEG abnormality |
3.1% |
1/32 |
| Enlarged cisterna magna |
3.1% |
1/32 |
| Epidermoid cyst |
3.1% |
1/32 |
| Generalized cerebral atrophy/hypoplasia |
3.1% |
1/32 |
| Hydrocephalus |
3.1% |
1/32 |
| Intraventricular hemorrhage |
3.1% |
1/32 |
| Mild fetal ventriculomegaly |
3.1% |
1/32 |
| Pachygyria |
3.1% |
1/32 |
| Partial absence of the septum pellucidum |
3.1% |
1/32 |
| Polymicrogyria |
3.1% |
1/32 |
| Profound static encephalopathy |
3.1% |
1/32 |
| Punctate periventricular T2 hyperintense foci |
3.1% |
1/32 |
| Retrocerebellar cyst |
3.1% |
1/32 |
| Subcortical white matter calcifications |
3.1% |
1/32 |
| Subependymal cysts |
3.1% |
1/32 |
| White mater abnormalities in the posterior periventricular region |
3.1% |
1/32 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
76.2% |
32/42 |
| Prominent ear helix |
21.4% |
9/42 |
| Low-set ears |
19.0% |
8/42 |
| Protruding ear |
19.0% |
8/42 |
| Cupped ear |
14.3% |
6/42 |
| Low-set, posteriorly rotated ears |
11.9% |
5/42 |
| Chronic otitis media |
9.5% |
4/42 |
| Bilateral sensorineural hearing impairment |
7.1% |
3/42 |
| Abnormality of the crus of the helix |
4.8% |
2/42 |
| Prominent antihelix |
4.8% |
2/42 |
| Sensorineural hearing impairment |
4.8% |
2/42 |
| Small earlobe |
4.8% |
2/42 |
| Abnormality of the antihelix |
2.4% |
1/42 |
| Anteverted ears |
2.4% |
1/42 |
| Childhood onset sensorineural hearing impairment |
2.4% |
1/42 |
| Hypertelorism |
2.4% |
1/42 |
| Hypoplasia of the antihelix |
2.4% |
1/42 |
| Large earlobe |
2.4% |
1/42 |
| Macrotia |
2.4% |
1/42 |
| Mild neurosensory hearing impairment |
2.4% |
1/42 |
| Profound sensorineural hearing impairment |
2.4% |
1/42 |
| Recurrent otitis media |
2.4% |
1/42 |
| Thickened helices |
2.4% |
1/42 |
| Abnormality of the eye |
90.5% |
38/42 |
| Strabismus |
26.2% |
11/42 |
| Hypertelorism |
23.8% |
10/42 |
| Downslanted palpebral fissures |
21.4% |
9/42 |
| Deeply set eye |
19.0% |
8/42 |
| Thick eyebrow |
19.0% |
8/42 |
| Myopia |
11.9% |
5/42 |
| Abnormality of the lacrimal duct |
9.5% |
4/42 |
| Slanting of the palpebral fissure |
9.5% |
4/42 |
| Bilateral ptosis |
7.1% |
3/42 |
| Highly arched eyebrow |
7.1% |
3/42 |
| Long eyebrows |
7.1% |
3/42 |
| Medial flaring of the eyebrow |
7.1% |
3/42 |
| Oculomotor apraxia |
7.1% |
3/42 |
| Synophrys |
7.1% |
3/42 |
| Nystagmus |
4.8% |
2/42 |
| Abnormality of saccadic eye movements |
2.4% |
1/42 |
| Abnormality of the orbital region |
2.4% |
1/42 |
| Abnormality of the glabella |
2.4% |
1/42 |
| Abnormality of the cornea |
2.4% |
1/42 |
| Abnormality of the palpebral fissures |
2.4% |
1/42 |
| Abnormal shape of the palpebral fissure |
2.4% |
1/42 |
| Abnormality of vision |
2.4% |
1/42 |
| Astigmatism |
2.4% |
1/42 |
| Blepharophimosis |
2.4% |
1/42 |
| Blindness |
2.4% |
1/42 |
| Broad eyebrow |
2.4% |
1/42 |
| Horizontal eyebrow |
2.4% |
1/42 |
| Long palpebral fissure |
2.4% |
1/42 |
| Long eyelashes |
2.4% |
1/42 |
| Nevus flammeus |
2.4% |
1/42 |
| Periorbital fullness |
2.4% |
1/42 |
| Prominent epicanthal folds |
2.4% |
1/42 |
| Prominent supraorbital ridges |
2.4% |
1/42 |
| Short palpebral fissure |
2.4% |
1/42 |
| Sunken cheeks |
2.4% |
1/42 |
| Telecanthus |
2.4% |
1/42 |
| Abnormality of the nose |
70.7% |
29/41 |
| Bulbous nose |
36.6% |
15/41 |
| Anteverted nares |
22.0% |
9/41 |
| Wide nasal bridge |
22.0% |
9/41 |
| Short nose |
17.1% |
7/41 |
| Wide nasal base |
9.8% |
4/41 |
| Wide nose |
9.8% |
4/41 |
| Broad nasal tip |
4.9% |
2/41 |
| Low hanging columella |
4.9% |
2/41 |
| Prominent nasal tip |
4.9% |
2/41 |
| Abnormality of the nasal alae |
2.4% |
1/41 |
| Depressed nasal bridge |
2.4% |
1/41 |
| Flat nasal alae |
2.4% |
1/41 |
| Hypoplastic philtrum |
2.4% |
1/41 |
| Smooth philtrum |
2.4% |
1/41 |
| Abnormality of the mouth |
83.3% |
35/42 |
| Long philtrum |
21.4% |
9/42 |
| High palate |
16.7% |
7/42 |
| Smooth philtrum |
16.7% |
7/42 |
| Abnormality of upper lip vermillion |
11.9% |
5/42 |
| Retrognathia |
11.9% |
5/42 |
| Micrognathia |
7.1% |
3/42 |
| Tented upper lip vermilion |
7.1% |
3/42 |
| Widely spaced teeth |
7.1% |
3/42 |
| Abnormality of mouth size |
4.8% |
2/42 |
| Abnormality of malar bones |
4.8% |
2/42 |
| Bilateral cleft lip and palate |
4.8% |
2/42 |
| Broad philtrum |
4.8% |
2/42 |
| Carious teeth |
4.8% |
2/42 |
| Drooling |
4.8% |
2/42 |
| High, narrow palate |
4.8% |
2/42 |
| Microretrognathia |
4.8% |
2/42 |
| Overbite |
4.8% |
2/42 |
| Thick vermilion border |
4.8% |
2/42 |
| Thin vermilion border |
4.8% |
2/42 |
| Thin upper lip vermilion |
4.8% |
2/42 |
| Wide mouth |
4.8% |
2/42 |
| Abnormality of the philtrum |
2.4% |
1/42 |
| Bifid uvula |
2.4% |
1/42 |
| Bruxism |
2.4% |
1/42 |
| Cleft hard palate |
2.4% |
1/42 |
| Coloboma |
2.4% |
1/42 |
| Conical tooth |
2.4% |
1/42 |
| Downturned corners of mouth |
2.4% |
1/42 |
| Large earlobe |
2.4% |
1/42 |
| Long face |
2.4% |
1/42 |
| Long upper lip |
2.4% |
1/42 |
| Low-set ears |
2.4% |
1/42 |
| Macrotia |
2.4% |
1/42 |
| Macrodontia |
2.4% |
1/42 |
| Narrow palate |
2.4% |
1/42 |
| Open mouth |
2.4% |
1/42 |
| Protruding ear |
2.4% |
1/42 |
| Pursed lips |
2.4% |
1/42 |
| Short philtrum |
2.4% |
1/42 |
| Thick lower lip vermilion |
2.4% |
1/42 |
| Thickened helices |
2.4% |
1/42 |
| Thick upper lip vermilion |
2.4% |
1/42 |
| Unilateral cleft lip |
2.4% |
1/42 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
47.4% |
18/38 |
| Bilateral sensorineural hearing impairment |
18.4% |
7/38 |
| Chronic otitis media |
15.8% |
6/38 |
| Childhood onset sensorineural hearing impairment |
7.9% |
3/38 |
| Mild neurosensory hearing impairment |
5.3% |
2/38 |
| Recurrent otitis media |
5.3% |
2/38 |
| Acute otitis media |
2.6% |
1/38 |
| Bilateral conductive hearing impairment |
2.6% |
1/38 |
| Hearing impairment |
2.6% |
1/38 |
| Mixed hearing impairment |
2.6% |
1/38 |
| Nasal obstruction |
2.6% |
1/38 |
| Sensorineural hearing impairment |
2.6% |
1/38 |
| Stenosis of the Eustachian tube |
2.6% |
1/38 |
| Abnormal vision |
45.5% |
15/33 |
| Strabismus |
27.3% |
9/33 |
| Myopia |
12.1% |
4/33 |
| Nystagmus |
6.1% |
2/33 |
| Abnormality of saccadic eye movements |
3.0% |
1/33 |
| Astigmatism |
3.0% |
1/33 |
| Blindness |
3.0% |
1/33 |
| Congenital strabismus |
3.0% |
1/33 |
| Cortical visual impairment |
3.0% |
1/33 |
| Esotropia |
3.0% |
1/33 |
| Oculomotor apraxia |
3.0% |
1/33 |
| Slow decrease in visual acuity |
3.0% |
1/33 |
| Heart |
|
|
| Abnormality of the heart |
41.5% |
17/41 |
| Abnormality of the ventricular septum |
7.3% |
3/41 |
| Abnormality of the atrial septum |
4.9% |
2/41 |
| Aortic regurgitation |
4.9% |
2/41 |
| Aortic root dilatation |
4.9% |
2/41 |
| Aortic valve stenosis |
4.9% |
2/41 |
| Patent foramen ovale |
4.9% |
2/41 |
| Ventricular septal defect |
4.9% |
2/41 |
| Abnormality of the aortic arch |
2.4% |
1/41 |
| Abnormality of the pulmonary artery |
2.4% |
1/41 |
| Abnormality of the aortic valve |
2.4% |
1/41 |
| Absent septum pellucidum |
2.4% |
1/41 |
| Atria septal defect |
2.4% |
1/41 |
| Cardiomegaly |
2.4% |
1/41 |
| Coarctation of aorta |
2.4% |
1/41 |
| Coarctation of the descending aortic arch |
2.4% |
1/41 |
| Congenital septal defect |
2.4% |
1/41 |
| Elevated pulmonary artery pressure |
2.4% |
1/41 |
| Heart murmur |
2.4% |
1/41 |
| Primum atrial septal defect |
2.4% |
1/41 |
| Prolonged QT interval |
2.4% |
1/41 |
| Pulmonary artery atresia |
2.4% |
1/41 |
| Pulmonary hypertension |
2.4% |
1/41 |
| Pulmonary artery hypoplasia |
2.4% |
1/41 |
| Right aortic arch with left descending aorta and left ductus arteriosus |
2.4% |
1/41 |
| Ventriculomegaly |
2.4% |
1/41 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
76.9% |
30/39 |
| Feeding difficulties |
48.7% |
19/39 |
| Feeding difficulties in infancy |
38.5% |
15/39 |
| Gastroesophageal reflux |
23.1% |
9/39 |
| Constipation |
12.8% |
5/39 |
| Oral-pharyngeal dysphagia |
12.8% |
5/39 |
| Nasogastric tube feeding in infancy |
10.3% |
4/39 |
| Chronic constipation |
7.7% |
3/39 |
| Fatigable weakness of swallowing muscles |
5.1% |
2/39 |
| Gastrointestinal dysmotility |
5.1% |
2/39 |
| Gastrostomy tube feeding in infancy |
5.1% |
2/39 |
| Laryngomalacia |
5.1% |
2/39 |
| Abnormal branching pattern of the aortic arch |
2.6% |
1/39 |
| Abnormality of the anus |
2.6% |
1/39 |
| Aspiration |
2.6% |
1/39 |
| Bowel incontinence |
2.6% |
1/39 |
| Chewing difficulties |
2.6% |
1/39 |
| Delayed self-feeding during toddler years |
2.6% |
1/39 |
| Prolonged neonatal jaundice |
2.6% |
1/39 |
| Vomiting |
2.6% |
1/39 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
33.3% |
13/39 |
| Cryptorchidism |
20.5% |
8/39 |
| Hypospadias |
7.7% |
3/39 |
| Ambiguous genitalia |
2.6% |
1/39 |
| Bilateral cryptorchidism |
2.6% |
1/39 |
| Bladder diverticulum |
2.6% |
1/39 |
| Hydronephrosis |
2.6% |
1/39 |
| Hydroureter |
2.6% |
1/39 |
| Penoscrotal hypospadias |
2.6% |
1/39 |
| Testicular dysgenesis |
2.6% |
1/39 |
| Unilateral cryptorchidism |
2.6% |
1/39 |
| Urinary incontinence |
2.6% |
1/39 |
| Vesicoureteral reflux |
2.6% |
1/39 |
| Skeleton |
|
|
| Skeletal abnormalities |
97.6% |
41/42 |
| Sacral dimple |
31.0% |
13/42 |
| Microcephaly |
23.8% |
10/42 |
| Short stature |
19.0% |
8/42 |
| Short neck |
16.7% |
7/42 |
| Scoliosis |
11.9% |
5/42 |
| Joint hyperflexibility |
9.5% |
4/42 |
| Pes planus |
9.5% |
4/42 |
| Slender finger |
9.5% |
4/42 |
| Abnormality of the gluteal musculature |
7.1% |
3/42 |
| Brachycephaly |
7.1% |
3/42 |
| Hip dysplasia |
7.1% |
3/42 |
| Joint hypermobility |
7.1% |
3/42 |
| Kyphosis |
7.1% |
3/42 |
| Pectus excavatum |
7.1% |
3/42 |
| Plagiocephaly |
7.1% |
3/42 |
| 11 pairs of ribs |
7.1% |
3/42 |
| Bilateral talipes equinovarus |
4.8% |
2/42 |
| Growth delay |
4.8% |
2/42 |
| High forehead |
4.8% |
2/42 |
| Joint laxity |
4.8% |
2/42 |
| Long fingers |
4.8% |
2/42 |
| Moderately short stature |
4.8% |
2/42 |
| Overlapping toe |
4.8% |
2/42 |
| Pointed chin |
4.8% |
2/42 |
| Postnatal growth retardation |
4.8% |
2/42 |
| Scapular winging |
4.8% |
2/42 |
| Single transverse palmar crease |
4.8% |
2/42 |
| Spasticity |
4.8% |
2/42 |
| Torticollis |
4.8% |
2/42 |
| Abnormality of the thoracic cavity |
2.4% |
1/42 |
| Abnormality of joint mobility |
2.4% |
1/42 |
| Abnormality of the radius |
2.4% |
1/42 |
| Abnormal shape of the occiput |
2.4% |
1/42 |
| Abnormal ossification involving the femoral head and neck |
2.4% |
1/42 |
| Abnormal number of vertebrae |
2.4% |
1/42 |
| Abnormality of the toenails |
2.4% |
1/42 |
| Abnormality of the sacrum |
2.4% |
1/42 |
| Abnormal morphology of ulna |
2.4% |
1/42 |
| Abnormality of the palmar creases |
2.4% |
1/42 |
| Aplasia involving bones of the extremities |
2.4% |
1/42 |
| Aplasia/Hypoplasia of fingers |
2.4% |
1/42 |
| Aplasia/Hypoplasia of the patella |
2.4% |
1/42 |
| Arachnodactyly |
2.4% |
1/42 |
| Bilateral single transverse palmar creases |
2.4% |
1/42 |
| Bowing of the legs |
2.4% |
1/42 |
| Brachydactyly syndrome |
2.4% |
1/42 |
| Broad forehead |
2.4% |
1/42 |
| Broad-based gait |
2.4% |
1/42 |
| Broad hallux phalanx |
2.4% |
1/42 |
| Clinodactyly of the 5th toe |
2.4% |
1/42 |
| Clinodactyly of the 5th finger |
2.4% |
1/42 |
| Complete duplication of distal phalanx of the thumb |
2.4% |
1/42 |
| Craniosynostosis |
2.4% |
1/42 |
| Deep palmar crease |
2.4% |
1/42 |
| Distal amyotrophy |
2.4% |
1/42 |
| Dolichocephaly |
2.4% |
1/42 |
| Finger joint hypermobility |
2.4% |
1/42 |
| Flat occiput |
2.4% |
1/42 |
| Gait apraxia |
2.4% |
1/42 |
| Generalized hypotonia |
2.4% |
1/42 |
| Generalized neonatal hypotonia |
2.4% |
1/42 |
| Hand polydactyly |
2.4% |
1/42 |
| Hyperextensibility at wrists |
2.4% |
1/42 |
| Hyperextensible hand joints |
2.4% |
1/42 |
| Hypoplastic fingernail |
2.4% |
1/42 |
| Kyphoscoliosis |
2.4% |
1/42 |
| Large forehead |
2.4% |
1/42 |
| Lower thoracic kyphosis |
2.4% |
1/42 |
| Lower limb spasticity |
2.4% |
1/42 |
| Lumbar kyphosis |
2.4% |
1/42 |
| Lumbar hyperlordosis |
2.4% |
1/42 |
| Macrocephaly |
2.4% |
1/42 |
| Mild microcephaly |
2.4% |
1/42 |
| Mild postnatal growth retardation |
2.4% |
1/42 |
| Muscular hypotonia |
2.4% |
1/42 |
| Myoclonus |
2.4% |
1/42 |
| Narrow forehead |
2.4% |
1/42 |
| Narrow chest |
2.4% |
1/42 |
| Osteopenia |
2.4% |
1/42 |
| Pectus carinatum |
2.4% |
1/42 |
| Progressive macrocephaly |
2.4% |
1/42 |
| Progressive congenital scoliosis |
2.4% |
1/42 |
| Prominent supraorbital ridges |
2.4% |
1/42 |
| Prominent coccyx |
2.4% |
1/42 |
| Prominent fingertip pads |
2.4% |
1/42 |
| Prominent protruding coccyx |
2.4% |
1/42 |
| Radioulnar synostosis |
2.4% |
1/42 |
| Short chin |
2.4% |
1/42 |
| Short digit |
2.4% |
1/42 |
| Sloping forehead |
2.4% |
1/42 |
| Small fontanelle |
2.4% |
1/42 |
| Spastic diplegia |
2.4% |
1/42 |
| Superior pectus carinatum |
2.4% |
1/42 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
59.5% |
22/37 |
| Sparse anterior scalp hair |
16.2% |
6/37 |
| Aplasia cutis congenita |
8.1% |
3/37 |
| Eczema |
8.1% |
3/37 |
| Toenail dysplasia |
8.1% |
3/37 |
| Few cafe-au-lait spots |
5.4% |
2/37 |
| Mottled pigmentation |
5.4% |
2/37 |
| Abnormality of the nail |
2.7% |
1/37 |
| Abnormality of skin pigmentation |
2.7% |
1/37 |
| Abnormality of hair texture |
2.7% |
1/37 |
| Abnormality of the toenails |
2.7% |
1/37 |
| Aplastic/hypoplastic toenail |
2.7% |
1/37 |
| Dry skin |
2.7% |
1/37 |
| Eczematoid dermatitis |
2.7% |
1/37 |
| Hypoplastic nipples |
2.7% |
1/37 |
| Hypoplastic fingernail |
2.7% |
1/37 |
| Hypopigmentation of the skin |
2.7% |
1/37 |
| Petechiae |
2.7% |
1/37 |
| Prominent fingertip pads |
2.7% |
1/37 |
| Scarring |
2.7% |
1/37 |
| Thin nail |
2.7% |
1/37 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
7.9% |
3/38 |
| Abnormality of thyroid physiology |
2.6% |
1/38 |
| Central hypothyroidism |
2.6% |
1/38 |
| Hypothyroidism |
2.6% |
1/38 |
| Abnormality of the metabolic system |
50.0% |
20/40 |
| Neonatal respiratory distress |
12.5% |
5/40 |
| Sleep disturbance |
10.0% |
4/40 |
| Asthma |
7.5% |
3/40 |
| Anemia |
5.0% |
2/40 |
| Chronic fatigue |
5.0% |
2/40 |
| Cyanosis |
5.0% |
2/40 |
| Easy fatigability |
5.0% |
2/40 |
| Hypoglycemia |
5.0% |
2/40 |
| Sleep apnea |
5.0% |
2/40 |
| Abnormality of mucopolysaccharide metabolism |
2.5% |
1/40 |
| Abnormality of temperature regulation |
2.5% |
1/40 |
| Apnea |
2.5% |
1/40 |
| Bronchitis |
2.5% |
1/40 |
| Constipation |
2.5% |
1/40 |
| Decreased mean platelet volume |
2.5% |
1/40 |
| Dyspnea |
2.5% |
1/40 |
| Hernia |
2.5% |
1/40 |
| Hydronephrosis |
2.5% |
1/40 |
| Neonatal hypoglycemia |
2.5% |
1/40 |
| Pain insensitivity |
2.5% |
1/40 |
| Recurrent upper respiratory tract infections |
2.5% |
1/40 |
| Respiratory distress |
2.5% |
1/40 |
| Small for gestational age |
2.5% |
1/40 |
| Abnormality of the immune system |
5.4% |
2/37 |
| Asthma |
2.7% |
1/37 |
| Bronchitis |
2.7% |
1/37 |
| Neoplasia |
|
|
| Neoplasia |
2.3% |
1/43 |
| Neuroblastoma |
2.3% |
1/43 |