| Gender |
|
|
| Male |
43.1% |
25/58 |
| Female |
56.9% |
33/58 |
| General |
|
|
| Birth Length abnormalities |
1.7% |
1/58 |
| > P98 : Birth length greater than 97th percentile |
1.7% |
1/58 |
| Birth Weight abnormalities |
6.9% |
4/58 |
| < P3 : Small for gestational age |
5.2% |
3/58 |
| > P98 : Large for gestational age |
1.7% |
1/58 |
| Birth Head circumference abnormalities |
1.7% |
1/58 |
| > P98 : Macrocephaly at birth |
1.7% |
1/58 |
| Current Height abnormalities |
31.0% |
18/58 |
| < P3 : Short stature |
31.0% |
18/58 |
| Current Weight abnormalities |
24.1% |
14/58 |
| < P3 : Decreased body weight |
20.7% |
12/58 |
| > P98 : Increased body weight |
3.4% |
2/58 |
| Current Head circumference abnormalities |
36.2% |
21/58 |
| < P3 : Microcephaly |
31.0% |
18/58 |
| > P98 : Macrocephaly |
5.2% |
3/58 |
| Neurology |
|
|
| Neurological abnormalities |
77.3% |
34/44 |
| Muscular hypotonia |
22.7% |
10/44 |
| Sleep disturbance |
11.4% |
5/44 |
| Generalized tonic-clonic seizures |
9.1% |
4/44 |
| Ankle clonus |
4.5% |
2/44 |
| Focal seizures |
4.5% |
2/44 |
| Hypertonia |
4.5% |
2/44 |
| Infantile spasms |
4.5% |
2/44 |
| Microcephaly |
4.5% |
2/44 |
| Severe muscular hypotonia |
4.5% |
2/44 |
| Abnormality of coordination |
2.3% |
1/44 |
| Abnormality of movement |
2.3% |
1/44 |
| Absent patellar reflexes |
2.3% |
1/44 |
| Attention deficit hyperactivity disorder |
2.3% |
1/44 |
| Autism |
2.3% |
1/44 |
| Bilateral convulsive seizures |
2.3% |
1/44 |
| Brisk reflexes |
2.3% |
1/44 |
| Cerebral palsy |
2.3% |
1/44 |
| Chewing difficulties |
2.3% |
1/44 |
| Clonus |
2.3% |
1/44 |
| Drooling |
2.3% |
1/44 |
| Dyskinesia |
2.3% |
1/44 |
| Epileptic encephalopathy |
2.3% |
1/44 |
| Facial hypotonia |
2.3% |
1/44 |
| Focal tonic seizures |
2.3% |
1/44 |
| Focal seizures without impairment of consciousness or awareness |
2.3% |
1/44 |
| Generalized hypotonia |
2.3% |
1/44 |
| Hyperreflexia |
2.3% |
1/44 |
| Hypersomnia |
2.3% |
1/44 |
| Hypothermia |
2.3% |
1/44 |
| Infantile axial hypotonia |
2.3% |
1/44 |
| Infantile muscular hypotonia |
2.3% |
1/44 |
| Intention tremor |
2.3% |
1/44 |
| Limb hypertonia |
2.3% |
1/44 |
| Lower limb spasticity |
2.3% |
1/44 |
| Lower limb hyperreflexia |
2.3% |
1/44 |
| Migraine |
2.3% |
1/44 |
| Neonatal hypotonia |
2.3% |
1/44 |
| Obstructive sleep apnea |
2.3% |
1/44 |
| Oral-pharyngeal dysphagia |
2.3% |
1/44 |
| Profound global developmental delay |
2.3% |
1/44 |
| Sensorimotor neuropathy |
2.3% |
1/44 |
| Spastic paraplegia |
2.3% |
1/44 |
| Spastic paraparesis |
2.3% |
1/44 |
| Spasticity |
2.3% |
1/44 |
| Stereotypic behavior |
2.3% |
1/44 |
| Tremor |
2.3% |
1/44 |
| Behavioral problems |
85.3% |
29/34 |
| Autism |
41.2% |
14/34 |
| Attention deficit hyperactivity disorder |
11.8% |
4/34 |
| Autistic behavior |
8.8% |
3/34 |
| Hyperactivity |
5.9% |
2/34 |
| Abnormal aggressive, impulsive or violent behavior |
2.9% |
1/34 |
| Aggressive behavior |
2.9% |
1/34 |
| Anxiety |
2.9% |
1/34 |
| Behavioral abnormality |
2.9% |
1/34 |
| Dyslexia |
2.9% |
1/34 |
| Emotional lability |
2.9% |
1/34 |
| Encopresis |
2.9% |
1/34 |
| Enuresis |
2.9% |
1/34 |
| Irritability |
2.9% |
1/34 |
| Low frustration tolerance |
2.9% |
1/34 |
| Memory impairment |
2.9% |
1/34 |
| Obsessive-compulsive behavior |
2.9% |
1/34 |
| Oppositional defiant disorder |
2.9% |
1/34 |
| Psychosis |
2.9% |
1/34 |
| Recurrent hand flapping |
2.9% |
1/34 |
| Self-injurious behavior |
2.9% |
1/34 |
| Short attention span |
2.9% |
1/34 |
| Stereotypic behavior |
2.9% |
1/34 |
| Brain abnormality |
60.7% |
17/28 |
| Ventriculomegaly |
17.9% |
5/28 |
| Dandy-Walker malformation |
10.7% |
3/28 |
| Cerebellar vermis hypoplasia |
7.1% |
2/28 |
| Cerebellar atrophy |
7.1% |
2/28 |
| Inferior vermis hypoplasia |
7.1% |
2/28 |
| Polymicrogyria |
7.1% |
2/28 |
| Abnormality of the clivus |
3.6% |
1/28 |
| Abnormality of the cerebellar vermis |
3.6% |
1/28 |
| Abnormality of the cerebral white matter |
3.6% |
1/28 |
| Abnormality of the cerebral ventricles |
3.6% |
1/28 |
| Arnold-Chiari type I malformation |
3.6% |
1/28 |
| Atrophy/Degeneration affecting the brainstem |
3.6% |
1/28 |
| Cavum septum pellucidum |
3.6% |
1/28 |
| Cerebral white matter atrophy |
3.6% |
1/28 |
| Cerebellar hypoplasia |
3.6% |
1/28 |
| Cerebral cortical atrophy |
3.6% |
1/28 |
| Choroid plexus cyst |
3.6% |
1/28 |
| Cortical dysplasia |
3.6% |
1/28 |
| Delayed myelination |
3.6% |
1/28 |
| Diffuse white matter abnormalities |
3.6% |
1/28 |
| Dilated fourth ventricle |
3.6% |
1/28 |
| Encephalomalacia |
3.6% |
1/28 |
| Hypoplasia of the corpus callosum |
3.6% |
1/28 |
| Hypoplasia of the brainstem |
3.6% |
1/28 |
| Hypoplasia of the pons |
3.6% |
1/28 |
| Intracranial hemorrhage |
3.6% |
1/28 |
| Occipital cortical atrophy |
3.6% |
1/28 |
| Porencephaly |
3.6% |
1/28 |
| Small pituitary gland |
3.6% |
1/28 |
| Widened subarachnoid space |
3.6% |
1/28 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
40.8% |
20/49 |
| Low-set ears |
16.3% |
8/49 |
| Large earlobe |
4.1% |
2/49 |
| Low-set, posteriorly rotated ears |
4.1% |
2/49 |
| Macrotia |
4.1% |
2/49 |
| Overfolded helix |
4.1% |
2/49 |
| Posteriorly rotated ears |
4.1% |
2/49 |
| Abnormality of the pinna |
2.0% |
1/49 |
| Aplasia/Hypoplasia of the tragus |
2.0% |
1/49 |
| Cupped ear |
2.0% |
1/49 |
| Microtia |
2.0% |
1/49 |
| Preauricular skin tag |
2.0% |
1/49 |
| Protruding ear |
2.0% |
1/49 |
| Small earlobe |
2.0% |
1/49 |
| Thickened helices |
2.0% |
1/49 |
| Abnormality of the eye |
73.5% |
36/49 |
| Epicanthus |
14.3% |
7/49 |
| Hypertelorism |
14.3% |
7/49 |
| Deeply set eye |
12.2% |
6/49 |
| Highly arched eyebrow |
12.2% |
6/49 |
| Upslanted palpebral fissure |
8.2% |
4/49 |
| Downslanted palpebral fissures |
6.1% |
3/49 |
| Short palpebral fissure |
6.1% |
3/49 |
| Telecanthus |
6.1% |
3/49 |
| Almond-shaped palpebral fissure |
4.1% |
2/49 |
| Prominent epicanthal folds |
4.1% |
2/49 |
| Small palpebral fissure |
4.1% |
2/49 |
| Thick eyebrow |
4.1% |
2/49 |
| Unilateral ptosis |
4.1% |
2/49 |
| Blepharophimosis |
2.0% |
1/49 |
| Ectropion |
2.0% |
1/49 |
| Long palpebral fissure |
2.0% |
1/49 |
| Medial flaring of the eyebrow |
2.0% |
1/49 |
| Ptosis |
2.0% |
1/49 |
| Sparse eyebrow |
2.0% |
1/49 |
| Strabismus |
2.0% |
1/49 |
| Synophrys |
2.0% |
1/49 |
| Visual impairment |
2.0% |
1/49 |
| Abnormality of the nose |
40.0% |
20/50 |
| Depressed nasal bridge |
18.0% |
9/50 |
| Anteverted nares |
12.0% |
6/50 |
| Narrow nose |
4.0% |
2/50 |
| Short nose |
4.0% |
2/50 |
| Wide nasal bridge |
4.0% |
2/50 |
| Abnormal nasal morphology |
2.0% |
1/50 |
| Abnormality of the columella |
2.0% |
1/50 |
| Broad nasal tip |
2.0% |
1/50 |
| Bulbous nose |
2.0% |
1/50 |
| Depressed nasal tip |
2.0% |
1/50 |
| Pear-shaped nose |
2.0% |
1/50 |
| Prominent nasal bridge |
2.0% |
1/50 |
| Prominent nose |
2.0% |
1/50 |
| Prominent nasal tip |
2.0% |
1/50 |
| Short philtrum |
2.0% |
1/50 |
| Smooth philtrum |
2.0% |
1/50 |
| Thick nasal alae |
2.0% |
1/50 |
| Abnormality of the mouth |
62.0% |
31/50 |
| Thin upper lip vermilion |
20.0% |
10/50 |
| Wide mouth |
10.0% |
5/50 |
| Cleft palate |
8.0% |
4/50 |
| High palate |
8.0% |
4/50 |
| Micrognathia |
8.0% |
4/50 |
| Smooth philtrum |
8.0% |
4/50 |
| Narrow mouth |
6.0% |
3/50 |
| Dental crowding |
4.0% |
2/50 |
| Everted lower lip vermilion |
4.0% |
2/50 |
| Pierre-Robin sequence |
4.0% |
2/50 |
| Short philtrum |
4.0% |
2/50 |
| Thick upper lip vermilion |
4.0% |
2/50 |
| Thick vermilion border |
4.0% |
2/50 |
| Abnormality of the teeth |
2.0% |
1/50 |
| Abnormality of the alveolar ridges |
2.0% |
1/50 |
| Agenesis of maxillary lateral incisor |
2.0% |
1/50 |
| Carious teeth |
2.0% |
1/50 |
| Chapped lip |
2.0% |
1/50 |
| Delayed eruption of teeth |
2.0% |
1/50 |
| Diastema |
2.0% |
1/50 |
| Downturned corners of mouth |
2.0% |
1/50 |
| Everted upper lip vermilion |
2.0% |
1/50 |
| High, narrow palate |
2.0% |
1/50 |
| Macrodontia of permanent maxillary central incisor |
2.0% |
1/50 |
| Mandibular prognathia |
2.0% |
1/50 |
| Microdontia |
2.0% |
1/50 |
| Misalignment of teeth |
2.0% |
1/50 |
| Oral cleft |
2.0% |
1/50 |
| Protruding tongue |
2.0% |
1/50 |
| Retrognathia |
2.0% |
1/50 |
| Thick lower lip vermilion |
2.0% |
1/50 |
| Widely spaced teeth |
2.0% |
1/50 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
17.8% |
8/45 |
| Sensorineural hearing impairment |
4.4% |
2/45 |
| Unilateral deafness |
4.4% |
2/45 |
| Abnormality of the inner ear |
2.2% |
1/45 |
| Bilateral sensorineural hearing impairment |
2.2% |
1/45 |
| Conductive hearing impairment |
2.2% |
1/45 |
| Glue ear |
2.2% |
1/45 |
| Hearing impairment |
2.2% |
1/45 |
| Mid-frequency hearing loss |
2.2% |
1/45 |
| Morphological abnormality of the lateral semicircular canal |
2.2% |
1/45 |
| Abnormal vision |
39.1% |
18/46 |
| Strabismus |
8.7% |
4/46 |
| Astigmatism |
6.5% |
3/46 |
| Hypermetropia |
6.5% |
3/46 |
| Myopia |
6.5% |
3/46 |
| Esotropia |
4.3% |
2/46 |
| Amblyopia |
2.2% |
1/46 |
| Anterior segment dysgenesis |
2.2% |
1/46 |
| Blindness |
2.2% |
1/46 |
| Central posterior corneal opacity |
2.2% |
1/46 |
| Corneal opacity |
2.2% |
1/46 |
| Cortical visual impairment |
2.2% |
1/46 |
| Iris coloboma |
2.2% |
1/46 |
| Lacrimal duct stenosis |
2.2% |
1/46 |
| Macular hypoplasia |
2.2% |
1/46 |
| Optic nerve hypoplasia |
2.2% |
1/46 |
| Optic nerve coloboma |
2.2% |
1/46 |
| Visual impairment |
2.2% |
1/46 |
| Heart |
|
|
| Abnormality of the heart |
50.0% |
17/34 |
| Ventricular septal defect |
17.6% |
6/34 |
| Patent ductus arteriosus |
11.8% |
4/34 |
| Atria septal defect |
8.8% |
3/34 |
| Bicuspid aortic valve |
5.9% |
2/34 |
| Patent foramen ovale |
5.9% |
2/34 |
| Tetralogy of Fallot |
5.9% |
2/34 |
| Abnormal heart morphology |
2.9% |
1/34 |
| Biventricular hypertrophy |
2.9% |
1/34 |
| Coarctation of aorta |
2.9% |
1/34 |
| Ebstein's anomaly of the tricuspid valve |
2.9% |
1/34 |
| Heart murmur |
2.9% |
1/34 |
| Left superior vena cava draining to coronary sinus |
2.9% |
1/34 |
| Patent ductus arteriosus after birth at term |
2.9% |
1/34 |
| Primum atrial septal defect |
2.9% |
1/34 |
| Pulmonary artery stenosis |
2.9% |
1/34 |
| Pulmonary artery hypoplasia |
2.9% |
1/34 |
| Subaortic stenosis |
2.9% |
1/34 |
| Supraventricular tachycardia |
2.9% |
1/34 |
| Pulmonary |
|
|
| Abnormality of the lungs |
42.9% |
9/21 |
| Asthma |
14.3% |
3/21 |
| Laryngomalacia |
9.5% |
2/21 |
| Tracheomalacia |
9.5% |
2/21 |
| Aspiration |
4.8% |
1/21 |
| Choanal stenosis |
4.8% |
1/21 |
| Pneumonia |
4.8% |
1/21 |
| Pulmonary edema |
4.8% |
1/21 |
| Recurrent upper respiratory tract infections |
4.8% |
1/21 |
| Respiratory infections in early life |
4.8% |
1/21 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
48.7% |
19/39 |
| Feeding difficulties |
23.1% |
9/39 |
| Gastroesophageal reflux |
17.9% |
7/39 |
| Constipation |
12.8% |
5/39 |
| Feeding difficulties in infancy |
7.7% |
3/39 |
| Chronic constipation |
5.1% |
2/39 |
| Abdominal pain |
2.6% |
1/39 |
| Diarrhea |
2.6% |
1/39 |
| Duodenal atresia |
2.6% |
1/39 |
| Gastrostomy tube feeding in infancy |
2.6% |
1/39 |
| Umbilical hernia |
2.6% |
1/39 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
44.8% |
13/29 |
| Hydronephrosis |
13.8% |
4/29 |
| Hypospadias |
13.8% |
4/29 |
| Bilateral cryptorchidism |
6.9% |
2/29 |
| Cryptorchidism |
6.9% |
2/29 |
| Multicystic kidney dysplasia |
6.9% |
2/29 |
| Uterus didelphys |
6.9% |
2/29 |
| Abnormality of the penis |
3.4% |
1/29 |
| Inguinal hernia |
3.4% |
1/29 |
| Micropenis |
3.4% |
1/29 |
| Microphallus |
3.4% |
1/29 |
| Pyelonephritis |
3.4% |
1/29 |
| Recurrent urinary tract infections |
3.4% |
1/29 |
| Renal hypoplasia/aplasia |
3.4% |
1/29 |
| Renal cyst |
3.4% |
1/29 |
| Scrotal hypoplasia |
3.4% |
1/29 |
| Unilateral renal hypoplasia |
3.4% |
1/29 |
| Vesicoureteral reflux |
3.4% |
1/29 |
| Skeleton |
|
|
| Skeletal abnormalities |
64.6% |
31/48 |
| Arachnodactyly |
8.3% |
4/48 |
| Clinodactyly of the 5th finger |
8.3% |
4/48 |
| Scoliosis |
6.3% |
3/48 |
| Delayed skeletal maturation |
4.2% |
2/48 |
| Hip dysplasia |
4.2% |
2/48 |
| Long fingers |
4.2% |
2/48 |
| Overlapping toe |
4.2% |
2/48 |
| Pes planus |
4.2% |
2/48 |
| Short neck |
4.2% |
2/48 |
| Short foot |
4.2% |
2/48 |
| Small hand |
4.2% |
2/48 |
| Tapered finger |
4.2% |
2/48 |
| 2-3 toe syndactyly |
4.2% |
2/48 |
| Abnormality of the phalanges of the toes |
2.1% |
1/48 |
| Abnormality of the vertebrae |
2.1% |
1/48 |
| Broad ribs |
2.1% |
1/48 |
| Broad toe |
2.1% |
1/48 |
| Clinodactyly of the 5th toe |
2.1% |
1/48 |
| Congenital muscular torticollis |
2.1% |
1/48 |
| Cubitus valgus |
2.1% |
1/48 |
| Enlarged thorax |
2.1% |
1/48 |
| Flexion contracture of finger |
2.1% |
1/48 |
| Hip dislocation |
2.1% |
1/48 |
| Joint hypermobility |
2.1% |
1/48 |
| Joint laxity |
2.1% |
1/48 |
| Kyphoscoliosis |
2.1% |
1/48 |
| Long toe |
2.1% |
1/48 |
| Long palm |
2.1% |
1/48 |
| Muscular hypotonia |
2.1% |
1/48 |
| Pectus excavatum |
2.1% |
1/48 |
| Postaxial hand polydactyly |
2.1% |
1/48 |
| Progressive flexion contractures |
2.1% |
1/48 |
| Recurrent fractures |
2.1% |
1/48 |
| Short finger |
2.1% |
1/48 |
| Short metacarpal |
2.1% |
1/48 |
| Short phalanx of finger |
2.1% |
1/48 |
| Short hallux |
2.1% |
1/48 |
| Short ribs |
2.1% |
1/48 |
| Short distal phalanx of finger |
2.1% |
1/48 |
| Single transverse palmar crease |
2.1% |
1/48 |
| Talipes equinovarus |
2.1% |
1/48 |
| Thoracolumbar scoliosis |
2.1% |
1/48 |
| Wide anterior fontanel |
2.1% |
1/48 |
| 4-5 finger syndactyly |
2.1% |
1/48 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
46.7% |
21/45 |
| Cafe-au-lait spot |
8.9% |
4/45 |
| Supernumerary nipple |
8.9% |
4/45 |
| Aplasia/Hypoplasia of the nails |
4.4% |
2/45 |
| Aplastic/hypoplastic toenail |
4.4% |
2/45 |
| Inverted nipples |
4.4% |
2/45 |
| Nail dysplasia |
4.4% |
2/45 |
| Small nail |
4.4% |
2/45 |
| Sparse hair |
4.4% |
2/45 |
| Abnormal number of hair whorls |
2.2% |
1/45 |
| Bruising susceptibility |
2.2% |
1/45 |
| Clinodactyly |
2.2% |
1/45 |
| Frontal upsweep of hair |
2.2% |
1/45 |
| Hyperconvex fingernails |
2.2% |
1/45 |
| Hypertrichosis |
2.2% |
1/45 |
| Hypoplastic fifth toenail |
2.2% |
1/45 |
| Hypoplastic fifth fingernail |
2.2% |
1/45 |
| Hypoplastic toenails |
2.2% |
1/45 |
| Low anterior hairline |
2.2% |
1/45 |
| Low posterior hairline |
2.2% |
1/45 |
| Soft skin |
2.2% |
1/45 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
14.3% |
2/14 |
| Cholestasis |
7.1% |
1/14 |
| Hypoglycemia |
7.1% |
1/14 |
| Hypothyroidism |
7.1% |
1/14 |
| Abnormality of the immune system |
27.8% |
5/18 |
| Otitis media |
11.1% |
2/18 |
| Recurrent otitis media |
11.1% |
2/18 |
| Recurrent infections |
5.6% |
1/18 |