Gender |
|
|
Male |
43.5% |
20/46 |
Female |
56.5% |
26/46 |
Indifferent |
0% |
0/46 |
Unknown |
0% |
0/46 |
General |
|
|
Birth Length abnormalities |
0% |
0/46 |
Birth Weight abnormalities |
2.2% |
1/46 |
< P3 : Small for gestational age |
2.2% |
1/46 |
Birth Head circumference abnormalities |
0% |
0/46 |
Current Height abnormalities |
30.4% |
14/46 |
< P3 : Short stature |
30.4% |
14/46 |
Current Weight abnormalities |
26.1% |
12/46 |
< P3 : Decreased body weight |
21.7% |
10/46 |
> P98 : Increased body weight |
4.3% |
2/46 |
Current Head circumference abnormalities |
32.6% |
15/46 |
< P3 : Microcephaly |
28.3% |
13/46 |
> P98 : Macrocephaly |
4.3% |
2/46 |
Neurology |
|
|
Neurological abnormalities |
85.3% |
29/34 |
Muscular hypotonia |
26.5% |
9/34 |
Sleep disturbance |
14.7% |
5/34 |
Generalized tonic-clonic seizures |
11.8% |
4/34 |
Ankle clonus |
5.9% |
2/34 |
Focal seizures |
5.9% |
2/34 |
Hypertonia |
5.9% |
2/34 |
Infantile spasms |
5.9% |
2/34 |
Severe muscular hypotonia |
5.9% |
2/34 |
Abnormality of movement |
2.9% |
1/34 |
Abnormality of coordination |
2.9% |
1/34 |
Absent patellar reflexes |
2.9% |
1/34 |
Bilateral convulsive seizures |
2.9% |
1/34 |
Brisk reflexes |
2.9% |
1/34 |
Clonus |
2.9% |
1/34 |
Epileptic encephalopathy |
2.9% |
1/34 |
Facial hypotonia |
2.9% |
1/34 |
Focal seizures without impairment of consciousness or awareness |
2.9% |
1/34 |
Hyperreflexia |
2.9% |
1/34 |
Hypothermia |
2.9% |
1/34 |
Infantile muscular hypotonia |
2.9% |
1/34 |
Infantile axial hypotonia |
2.9% |
1/34 |
Limb hypertonia |
2.9% |
1/34 |
Lower limb hyperreflexia |
2.9% |
1/34 |
Migraine |
2.9% |
1/34 |
Neonatal hypotonia |
2.9% |
1/34 |
Obstructive sleep apnea |
2.9% |
1/34 |
Oral-pharyngeal dysphagia |
2.9% |
1/34 |
Sensorimotor neuropathy |
2.9% |
1/34 |
Spastic paraparesis |
2.9% |
1/34 |
Spastic paraplegia |
2.9% |
1/34 |
Tremor |
2.9% |
1/34 |
Behavioral problems |
87.5% |
21/24 |
Autism |
50.0% |
12/24 |
Attention deficit hyperactivity disorder |
12.5% |
3/24 |
Autistic behavior |
8.3% |
2/24 |
Anxiety |
4.2% |
1/24 |
Behavioral abnormality |
4.2% |
1/24 |
Dyslexia |
4.2% |
1/24 |
Emotional lability |
4.2% |
1/24 |
Hyperactivity |
4.2% |
1/24 |
Memory impairment |
4.2% |
1/24 |
Obsessive-compulsive behavior |
4.2% |
1/24 |
Psychosis |
4.2% |
1/24 |
Recurrent hand flapping |
4.2% |
1/24 |
Short attention span |
4.2% |
1/24 |
Stereotypic behavior |
4.2% |
1/24 |
Brain abnormality |
61.9% |
13/21 |
Ventriculomegaly |
19.0% |
4/21 |
Dandy-Walker malformation |
14.3% |
3/21 |
Cerebellar vermis hypoplasia |
9.5% |
2/21 |
Cerebellar atrophy |
9.5% |
2/21 |
Inferior vermis hypoplasia |
9.5% |
2/21 |
Abnormality of the cerebellar vermis |
4.8% |
1/21 |
Arnold-Chiari type I malformation |
4.8% |
1/21 |
Atrophy/Degeneration affecting the brainstem |
4.8% |
1/21 |
Cerebral white matter atrophy |
4.8% |
1/21 |
Cerebral cortical atrophy |
4.8% |
1/21 |
Cerebellar hypoplasia |
4.8% |
1/21 |
Cortical dysplasia |
4.8% |
1/21 |
Delayed myelination |
4.8% |
1/21 |
Dilated fourth ventricle |
4.8% |
1/21 |
Encephalomalacia |
4.8% |
1/21 |
Hypoplasia of the corpus callosum |
4.8% |
1/21 |
Hypoplasia of the brainstem |
4.8% |
1/21 |
Hypoplasia of the pons |
4.8% |
1/21 |
Intracranial hemorrhage |
4.8% |
1/21 |
Occipital cortical atrophy |
4.8% |
1/21 |
Polymicrogyria |
4.8% |
1/21 |
Porencephaly |
4.8% |
1/21 |
Small pituitary gland |
4.8% |
1/21 |
Widened subarachnoid space |
4.8% |
1/21 |
Facial abnormalities |
|
|
Abnormality of the ear |
42.5% |
17/40 |
Low-set ears |
20.0% |
8/40 |
Large earlobe |
5.0% |
2/40 |
Macrotia |
5.0% |
2/40 |
Overfolded helix |
5.0% |
2/40 |
Posteriorly rotated ears |
5.0% |
2/40 |
Abnormality of the pinna |
2.5% |
1/40 |
Aplasia/Hypoplasia of the tragus |
2.5% |
1/40 |
Cupped ear |
2.5% |
1/40 |
Low-set, posteriorly rotated ears |
2.5% |
1/40 |
Microtia |
2.5% |
1/40 |
Preauricular skin tag |
2.5% |
1/40 |
Protruding ear |
2.5% |
1/40 |
Small earlobe |
2.5% |
1/40 |
Thickened helices |
2.5% |
1/40 |
Abnormality of the eye |
76.9% |
30/39 |
Hypertelorism |
17.9% |
7/39 |
Epicanthus |
15.4% |
6/39 |
Highly arched eyebrow |
15.4% |
6/39 |
Deeply set eye |
12.8% |
5/39 |
Upslanted palpebral fissure |
10.3% |
4/39 |
Short palpebral fissure |
7.7% |
3/39 |
Telecanthus |
7.7% |
3/39 |
Downslanted palpebral fissures |
5.1% |
2/39 |
Prominent epicanthal folds |
5.1% |
2/39 |
Small palpebral fissure |
5.1% |
2/39 |
Unilateral ptosis |
5.1% |
2/39 |
Almond-shaped palpebral fissure |
2.6% |
1/39 |
Ectropion |
2.6% |
1/39 |
Long palpebral fissure |
2.6% |
1/39 |
Ptosis |
2.6% |
1/39 |
Sparse eyebrow |
2.6% |
1/39 |
Thick eyebrow |
2.6% |
1/39 |
Abnormality of the nose |
45.0% |
18/40 |
Depressed nasal bridge |
20.0% |
8/40 |
Anteverted nares |
15.0% |
6/40 |
Narrow nose |
5.0% |
2/40 |
Short nose |
5.0% |
2/40 |
Wide nasal bridge |
5.0% |
2/40 |
Abnormal nasal morphology |
2.5% |
1/40 |
Abnormality of the columella |
2.5% |
1/40 |
Bulbous nose |
2.5% |
1/40 |
Depressed nasal tip |
2.5% |
1/40 |
Pear-shaped nose |
2.5% |
1/40 |
Prominent nasal bridge |
2.5% |
1/40 |
Prominent nose |
2.5% |
1/40 |
Abnormality of the mouth |
70.0% |
28/40 |
Thin upper lip vermilion |
22.5% |
9/40 |
High palate |
10.0% |
4/40 |
Micrognathia |
10.0% |
4/40 |
Smooth philtrum |
10.0% |
4/40 |
Wide mouth |
10.0% |
4/40 |
Cleft palate |
7.5% |
3/40 |
Dental crowding |
5.0% |
2/40 |
Narrow mouth |
5.0% |
2/40 |
Pierre-Robin sequence |
5.0% |
2/40 |
Short philtrum |
5.0% |
2/40 |
Thick vermilion border |
5.0% |
2/40 |
Abnormality of the alveolar ridges |
2.5% |
1/40 |
Abnormality of the teeth |
2.5% |
1/40 |
Agenesis of maxillary lateral incisor |
2.5% |
1/40 |
Carious teeth |
2.5% |
1/40 |
Chapped lip |
2.5% |
1/40 |
Delayed eruption of teeth |
2.5% |
1/40 |
Diastema |
2.5% |
1/40 |
Downturned corners of mouth |
2.5% |
1/40 |
Everted upper lip vermilion |
2.5% |
1/40 |
Everted lower lip vermilion |
2.5% |
1/40 |
High, narrow palate |
2.5% |
1/40 |
Macrodontia of permanent maxillary central incisor |
2.5% |
1/40 |
Mandibular prognathia |
2.5% |
1/40 |
Microdontia |
2.5% |
1/40 |
Misalignment of teeth |
2.5% |
1/40 |
Oral cleft |
2.5% |
1/40 |
Protruding tongue |
2.5% |
1/40 |
Thick upper lip vermilion |
2.5% |
1/40 |
Widely spaced teeth |
2.5% |
1/40 |
Visual and hearing impairments |
|
|
Abnormal hearing |
18.9% |
7/37 |
Unilateral deafness |
5.4% |
2/37 |
Abnormality of the inner ear |
2.7% |
1/37 |
Bilateral sensorineural hearing impairment |
2.7% |
1/37 |
Conductive hearing impairment |
2.7% |
1/37 |
Glue ear |
2.7% |
1/37 |
Hearing impairment |
2.7% |
1/37 |
Mid-frequency hearing loss |
2.7% |
1/37 |
Morphological abnormality of the lateral semicircular canal |
2.7% |
1/37 |
Sensorineural hearing impairment |
2.7% |
1/37 |
Abnormal vision |
36.1% |
13/36 |
Hypermetropia |
8.3% |
3/36 |
Strabismus |
8.3% |
3/36 |
Astigmatism |
5.6% |
2/36 |
Myopia |
5.6% |
2/36 |
Anterior segment dysgenesis |
2.8% |
1/36 |
Blindness |
2.8% |
1/36 |
Central posterior corneal opacity |
2.8% |
1/36 |
Corneal opacity |
2.8% |
1/36 |
Cortical visual impairment |
2.8% |
1/36 |
Esotropia |
2.8% |
1/36 |
Iris coloboma |
2.8% |
1/36 |
Macular hypoplasia |
2.8% |
1/36 |
Optic nerve coloboma |
2.8% |
1/36 |
Heart |
|
|
Abnormality of the heart |
56.5% |
13/23 |
Ventricular septal defect |
21.7% |
5/23 |
Patent ductus arteriosus |
17.4% |
4/23 |
Atria septal defect |
13.0% |
3/23 |
Bicuspid aortic valve |
8.7% |
2/23 |
Patent foramen ovale |
8.7% |
2/23 |
Abnormal heart morphology |
4.3% |
1/23 |
Biventricular hypertrophy |
4.3% |
1/23 |
Coarctation of aorta |
4.3% |
1/23 |
Ebstein's anomaly of the tricuspid valve |
4.3% |
1/23 |
Heart murmur |
4.3% |
1/23 |
Left superior vena cava draining to coronary sinus |
4.3% |
1/23 |
Primum atrial septal defect |
4.3% |
1/23 |
Pulmonary artery hypoplasia |
4.3% |
1/23 |
Subaortic stenosis |
4.3% |
1/23 |
Supraventricular tachycardia |
4.3% |
1/23 |
Tetralogy of Fallot |
4.3% |
1/23 |
Pulmonary |
|
|
Abnormality of the lungs |
80.0% |
8/10 |
Asthma |
30.0% |
3/10 |
Laryngomalacia |
20.0% |
2/10 |
Tracheomalacia |
20.0% |
2/10 |
Aspiration |
10.0% |
1/10 |
Choanal stenosis |
10.0% |
1/10 |
Recurrent upper respiratory tract infections |
10.0% |
1/10 |
Respiratory infections in early life |
10.0% |
1/10 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
60.7% |
17/28 |
Feeding difficulties |
28.6% |
8/28 |
Gastroesophageal reflux |
25.0% |
7/28 |
Constipation |
14.3% |
4/28 |
Feeding difficulties in infancy |
10.7% |
3/28 |
Abdominal pain |
3.6% |
1/28 |
Chronic constipation |
3.6% |
1/28 |
Diarrhea |
3.6% |
1/28 |
Duodenal atresia |
3.6% |
1/28 |
Urogenital |
|
|
Abnormality of the urogenital system |
55.6% |
10/18 |
Hydronephrosis |
22.2% |
4/18 |
Multicystic kidney dysplasia |
11.1% |
2/18 |
Uterus didelphys |
11.1% |
2/18 |
Bilateral cryptorchidism |
5.6% |
1/18 |
Cryptorchidism |
5.6% |
1/18 |
Hypospadias |
5.6% |
1/18 |
Micropenis |
5.6% |
1/18 |
Microphallus |
5.6% |
1/18 |
Pyelonephritis |
5.6% |
1/18 |
Recurrent urinary tract infections |
5.6% |
1/18 |
Renal hypoplasia/aplasia |
5.6% |
1/18 |
Renal cyst |
5.6% |
1/18 |
Scrotal hypoplasia |
5.6% |
1/18 |
Unilateral renal hypoplasia |
5.6% |
1/18 |
Vesicoureteral reflux |
5.6% |
1/18 |
Skeleton |
|
|
Skeletal abnormalities |
75.7% |
28/37 |
Arachnodactyly |
10.8% |
4/37 |
Clinodactyly of the 5th finger |
10.8% |
4/37 |
Delayed skeletal maturation |
5.4% |
2/37 |
Hip dysplasia |
5.4% |
2/37 |
Long fingers |
5.4% |
2/37 |
Overlapping toe |
5.4% |
2/37 |
Pes planus |
5.4% |
2/37 |
Scoliosis |
5.4% |
2/37 |
Short foot |
5.4% |
2/37 |
Short neck |
5.4% |
2/37 |
Small hand |
5.4% |
2/37 |
Tapered finger |
5.4% |
2/37 |
2-3 toe syndactyly |
5.4% |
2/37 |
Abnormality of the phalanges of the toes |
2.7% |
1/37 |
Abnormality of the vertebrae |
2.7% |
1/37 |
Broad toe |
2.7% |
1/37 |
Broad ribs |
2.7% |
1/37 |
Clinodactyly of the 5th toe |
2.7% |
1/37 |
Congenital muscular torticollis |
2.7% |
1/37 |
Cubitus valgus |
2.7% |
1/37 |
Enlarged thorax |
2.7% |
1/37 |
Flexion contracture of finger |
2.7% |
1/37 |
Hip dislocation |
2.7% |
1/37 |
Joint laxity |
2.7% |
1/37 |
Joint hypermobility |
2.7% |
1/37 |
Kyphoscoliosis |
2.7% |
1/37 |
Long palm |
2.7% |
1/37 |
Long toe |
2.7% |
1/37 |
Pectus excavatum |
2.7% |
1/37 |
Postaxial hand polydactyly |
2.7% |
1/37 |
Progressive flexion contractures |
2.7% |
1/37 |
Recurrent fractures |
2.7% |
1/37 |
Short hallux |
2.7% |
1/37 |
Short distal phalanx of finger |
2.7% |
1/37 |
Short phalanx of finger |
2.7% |
1/37 |
Short ribs |
2.7% |
1/37 |
Short finger |
2.7% |
1/37 |
Short metacarpal |
2.7% |
1/37 |
Single transverse palmar crease |
2.7% |
1/37 |
Thoracolumbar scoliosis |
2.7% |
1/37 |
Wide anterior fontanel |
2.7% |
1/37 |
4-5 finger syndactyly |
2.7% |
1/37 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
57.6% |
19/33 |
Cafe-au-lait spot |
12.1% |
4/33 |
Supernumerary nipple |
12.1% |
4/33 |
Aplasia/Hypoplasia of the nails |
6.1% |
2/33 |
Aplastic/hypoplastic toenail |
6.1% |
2/33 |
Inverted nipples |
6.1% |
2/33 |
Nail dysplasia |
6.1% |
2/33 |
Small nail |
6.1% |
2/33 |
Sparse hair |
6.1% |
2/33 |
Abnormal number of hair whorls |
3.0% |
1/33 |
Bruising susceptibility |
3.0% |
1/33 |
Clinodactyly |
3.0% |
1/33 |
Frontal upsweep of hair |
3.0% |
1/33 |
Hyperconvex fingernails |
3.0% |
1/33 |
Hypoplastic fifth fingernail |
3.0% |
1/33 |
Hypoplastic fifth toenail |
3.0% |
1/33 |
Hypoplastic toenails |
3.0% |
1/33 |
Low anterior hairline |
3.0% |
1/33 |
Low posterior hairline |
3.0% |
1/33 |
Soft skin |
3.0% |
1/33 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
66.7% |
2/3 |
Cholestasis |
33.3% |
1/3 |
Hypoglycemia |
33.3% |
1/3 |
Hypothyroidism |
33.3% |
1/3 |
Abnormality of the immune system |
71.4% |
5/7 |
Otitis media |
28.6% |
2/7 |
Recurrent otitis media |
28.6% |
2/7 |
Recurrent infections |
14.3% |
1/7 |