| Gender |
|
|
| Male |
45.1% |
37/82 |
| Female |
54.9% |
45/82 |
| Indifferent |
0% |
0/82 |
| Unknown |
0% |
0/82 |
| General |
|
|
| Birth Length abnormalities |
4.9% |
4/82 |
| > P98 : Birth length greater than 97th percentile |
2.4% |
2/82 |
| < P3 : Birth length less than 3rd percentile |
2.4% |
2/82 |
| Birth Weight abnormalities |
4.9% |
4/82 |
| < P3 : Small for gestational age |
4.9% |
4/82 |
| Birth Head circumference abnormalities |
1.2% |
1/82 |
| < P3 : Primary microcephaly |
1.2% |
1/82 |
| Current Height abnormalities |
13.4% |
11/82 |
| < P3 : Short stature |
12.2% |
10/82 |
| > P98 : Tall stature |
1.2% |
1/82 |
| Current Weight abnormalities |
15.9% |
13/82 |
| < P3 : Decreased body weight |
14.6% |
12/82 |
| > P98 : Increased body weight |
1.2% |
1/82 |
| Current Head circumference abnormalities |
40.2% |
33/82 |
| < P3 : Microcephaly |
39.0% |
32/82 |
| > P98 : Macrocephaly |
1.2% |
1/82 |
| Neurology |
|
|
| Neurological abnormalities |
87.5% |
49/56 |
| Hypotonia |
67.9% |
38/56 |
| Seizure |
12.5% |
7/56 |
| Dysphagia |
8.9% |
5/56 |
| Nystagmus |
5.4% |
3/56 |
| Febrile seizure (within the age range of 3 months to 6 years) |
3.6% |
2/56 |
| Hypertonia |
3.6% |
2/56 |
| Areflexia of lower limbs |
1.8% |
1/56 |
| Decreased sensory nerve conduction velocity |
1.8% |
1/56 |
| Decreased motor nerve conduction velocity |
1.8% |
1/56 |
| Dystonia |
1.8% |
1/56 |
| Facial palsy |
1.8% |
1/56 |
| Hyporeflexia |
1.8% |
1/56 |
| obsolete Infantile axial hypotonia |
1.8% |
1/56 |
| Polyneuropathy |
1.8% |
1/56 |
| Severe muscular hypotonia |
1.8% |
1/56 |
| Symptomatic seizures |
1.8% |
1/56 |
| Behavioral problems |
62.5% |
15/24 |
| Atypical behavior |
16.7% |
4/24 |
| Anxiety |
12.5% |
3/24 |
| Drooling |
8.3% |
2/24 |
| Aggressive behavior |
4.2% |
1/24 |
| Attention deficit hyperactivity disorder |
4.2% |
1/24 |
| Autistic behavior |
4.2% |
1/24 |
| Borderline |
4.2% |
1/24 |
| Depression |
4.2% |
1/24 |
| Polyphagia |
4.2% |
1/24 |
| Brain abnormality |
76.4% |
42/55 |
| Agenesis of corpus callosum |
25.5% |
14/55 |
| Aplasia/Hypoplasia of the corpus callosum |
21.8% |
12/55 |
| Hypoplasia of the corpus callosum |
7.3% |
4/55 |
| Ventriculomegaly |
7.3% |
4/55 |
| Abnormal lateral ventricle morphology |
5.5% |
3/55 |
| Colpocephaly |
3.6% |
2/55 |
| Delayed myelination |
3.6% |
2/55 |
| Dilation of Virchow-Robin spaces |
3.6% |
2/55 |
| Lateral ventricular asymmetry |
3.6% |
2/55 |
| Lateral ventricle dilatation |
3.6% |
2/55 |
| Partial agenesis of the corpus callosum |
3.6% |
2/55 |
| Periventricular heterotopia |
3.6% |
2/55 |
| Absent septum pellucidum |
1.8% |
1/55 |
| Arachnoid cyst |
1.8% |
1/55 |
| Cerebral cortical atrophy |
1.8% |
1/55 |
| Cerebral palsy |
1.8% |
1/55 |
| Cerebral hypomyelination |
1.8% |
1/55 |
| Gliosis |
1.8% |
1/55 |
| Gray matter heterotopia |
1.8% |
1/55 |
| Hydrocephalus |
1.8% |
1/55 |
| Hypoplasia of the brainstem |
1.8% |
1/55 |
| Leukoencephalopathy |
1.8% |
1/55 |
| Pachygyria |
1.8% |
1/55 |
| Short corpus callosum |
1.8% |
1/55 |
| Simplified gyral pattern |
1.8% |
1/55 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
40.3% |
31/77 |
| Low-set ears |
23.4% |
18/77 |
| Microtia |
11.7% |
9/77 |
| obsolete Low-set, posteriorly rotated ears |
5.2% |
4/77 |
| Cupped ear |
2.6% |
2/77 |
| Overfolded helix |
2.6% |
2/77 |
| Protruding ear |
2.6% |
2/77 |
| Small earlobe |
2.6% |
2/77 |
| Abnormal pinna morphology |
1.3% |
1/77 |
| Periauricular skin pits |
1.3% |
1/77 |
| Thickened helices |
1.3% |
1/77 |
| Abnormality of the eye |
78.9% |
60/76 |
| Blepharophimosis |
51.3% |
39/76 |
| Ptosis |
32.9% |
25/76 |
| Nasolacrimal duct obstruction |
21.1% |
16/76 |
| Hypertelorism |
18.4% |
14/76 |
| Short palpebral fissure |
10.5% |
8/76 |
| Epicanthus |
9.2% |
7/76 |
| Downslanted palpebral fissures |
7.9% |
6/76 |
| Narrow palpebral fissure |
7.9% |
6/76 |
| Epicanthus inversus |
6.6% |
5/76 |
| obsolete Prominent epicanthal folds |
6.6% |
5/76 |
| Telecanthus |
6.6% |
5/76 |
| obsolete Sparse and thin eyebrow |
5.3% |
4/76 |
| Bilateral ptosis |
2.6% |
2/76 |
| Infra-orbital crease |
2.6% |
2/76 |
| Synophrys |
2.6% |
2/76 |
| Upslanted palpebral fissure |
2.6% |
2/76 |
| Deeply set eye |
1.3% |
1/76 |
| Infra-orbital fold |
1.3% |
1/76 |
| Proptosis |
1.3% |
1/76 |
| Thick eyebrow |
1.3% |
1/76 |
| Unilateral ptosis |
1.3% |
1/76 |
| Abnormality of the nose |
60.5% |
46/76 |
| Bulbous nose |
28.9% |
22/76 |
| Wide nasal bridge |
18.4% |
14/76 |
| Depressed nasal bridge |
13.2% |
10/76 |
| Prominent nasal bridge |
6.6% |
5/76 |
| Broad nasal tip |
3.9% |
3/76 |
| Depressed nasal ridge |
3.9% |
3/76 |
| Anteverted nares |
2.6% |
2/76 |
| Short columella |
2.6% |
2/76 |
| Wide nose |
2.6% |
2/76 |
| Low hanging columella |
1.3% |
1/76 |
| Prominent nose |
1.3% |
1/76 |
| Short nose |
1.3% |
1/76 |
| Abnormality of the mouth |
73.7% |
56/76 |
| Micrognathia |
22.4% |
17/76 |
| Abnormality of the dentition |
15.8% |
12/76 |
| Cleft palate |
14.5% |
11/76 |
| High palate |
14.5% |
11/76 |
| Thin upper lip vermilion |
13.2% |
10/76 |
| Long philtrum |
9.2% |
7/76 |
| Narrow mouth |
9.2% |
7/76 |
| Microdontia |
7.9% |
6/76 |
| Bifid uvula |
5.3% |
4/76 |
| Pierre-Robin sequence |
3.9% |
3/76 |
| Deep philtrum |
2.6% |
2/76 |
| Mandibular prognathia |
2.6% |
2/76 |
| Open mouth |
2.6% |
2/76 |
| Retrognathia |
2.6% |
2/76 |
| Smooth philtrum |
2.6% |
2/76 |
| Widely spaced teeth |
2.6% |
2/76 |
| Abnormal incisor morphology |
1.3% |
1/76 |
| Absent uvula |
1.3% |
1/76 |
| Agenesis of permanent maxillary lateral incisor |
1.3% |
1/76 |
| Broad uvula |
1.3% |
1/76 |
| Cleft soft palate |
1.3% |
1/76 |
| Dental malocclusion |
1.3% |
1/76 |
| Dental crowding |
1.3% |
1/76 |
| Diastema |
1.3% |
1/76 |
| Downturned corners of mouth |
1.3% |
1/76 |
| Everted lower lip vermilion |
1.3% |
1/76 |
| High, narrow palate |
1.3% |
1/76 |
| Hypodontia |
1.3% |
1/76 |
| Hypoplasia of teeth |
1.3% |
1/76 |
| Macroglossia |
1.3% |
1/76 |
| Microretrognathia |
1.3% |
1/76 |
| Narrow philtrum |
1.3% |
1/76 |
| Pointed chin |
1.3% |
1/76 |
| Protruding tongue |
1.3% |
1/76 |
| Short philtrum |
1.3% |
1/76 |
| Short chin |
1.3% |
1/76 |
| Thin vermilion border |
1.3% |
1/76 |
| Trismus |
1.3% |
1/76 |
| Wide mouth |
1.3% |
1/76 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
29.3% |
17/58 |
| Hearing impairment |
20.7% |
12/58 |
| Sensorineural hearing impairment |
6.9% |
4/58 |
| Low-frequency hearing loss |
1.7% |
1/58 |
| Abnormal vision |
56.1% |
23/41 |
| Strabismus |
12.2% |
5/41 |
| Cerebral visual impairment |
9.8% |
4/41 |
| Hypermetropia |
9.8% |
4/41 |
| Myopia |
9.8% |
4/41 |
| Optic nerve hypoplasia |
9.8% |
4/41 |
| Optic atrophy |
7.3% |
3/41 |
| Astigmatism |
4.9% |
2/41 |
| Amblyopia |
2.4% |
1/41 |
| Esotropia |
2.4% |
1/41 |
| High myopia |
2.4% |
1/41 |
| Impaired smooth pursuit |
2.4% |
1/41 |
| obsolete Hypoplasia of the retina |
2.4% |
1/41 |
| Photophobia |
2.4% |
1/41 |
| Retinopathy |
2.4% |
1/41 |
| Heart |
|
|
| Abnormality of the heart |
57.1% |
40/70 |
| Atrial septal defect |
27.1% |
19/70 |
| Abnormal heart morphology |
11.4% |
8/70 |
| Patent ductus arteriosus |
11.4% |
8/70 |
| Ventricular septal defect |
10.0% |
7/70 |
| Secundum atrial septal defect |
4.3% |
3/70 |
| Mitral regurgitation |
2.9% |
2/70 |
| Muscular ventricular septal defect |
2.9% |
2/70 |
| Right ventricular hypertrophy |
2.9% |
2/70 |
| Abnormal aortic arch morphology |
1.4% |
1/70 |
| Cardiomegaly |
1.4% |
1/70 |
| Left aortic arch with retroesophageal right subclavian artery |
1.4% |
1/70 |
| Patent foramen ovale |
1.4% |
1/70 |
| Peripheral pulmonary artery stenosis |
1.4% |
1/70 |
| Right aortic arch with retroesophageal left subclavian artery |
1.4% |
1/70 |
| Supraventricular tachycardia |
1.4% |
1/70 |
| Tricuspid regurgitation |
1.4% |
1/70 |
| Pulmonary |
|
|
| Abnormality of the lungs |
66.7% |
24/36 |
| Laryngomalacia |
19.4% |
7/36 |
| Respiratory distress |
19.4% |
7/36 |
| Obstructive sleep apnea |
8.3% |
3/36 |
| Abnormal respiratory system morphology |
5.6% |
2/36 |
| Central apnea |
5.6% |
2/36 |
| obsolete Respiratory difficulties |
5.6% |
2/36 |
| Asthma |
2.8% |
1/36 |
| Laryngotracheomalacia |
2.8% |
1/36 |
| Neonatal respiratory distress |
2.8% |
1/36 |
| Pulmonary edema |
2.8% |
1/36 |
| Pulmonary hypoplasia |
2.8% |
1/36 |
| Respiratory tract infection |
2.8% |
1/36 |
| Sleep apnea |
2.8% |
1/36 |
| Tachypnea |
2.8% |
1/36 |
| Tracheomalacia |
2.8% |
1/36 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
76.5% |
52/68 |
| Feeding difficulties |
57.4% |
39/68 |
| Gastroesophageal reflux |
13.2% |
9/68 |
| Anteriorly placed anus |
7.4% |
5/68 |
| Anal atresia |
4.4% |
3/68 |
| Malrotation of small bowel |
4.4% |
3/68 |
| Chronic constipation |
2.9% |
2/68 |
| Constipation |
2.9% |
2/68 |
| Ileus |
2.9% |
2/68 |
| Anal stenosis |
1.5% |
1/68 |
| Enterocolitis |
1.5% |
1/68 |
| Feeding difficulties in infancy |
1.5% |
1/68 |
| Gastroparesis |
1.5% |
1/68 |
| Hepatomegaly |
1.5% |
1/68 |
| Intestinal atresia |
1.5% |
1/68 |
| Pancreatic hypoplasia |
1.5% |
1/68 |
| Polysplenia |
1.5% |
1/68 |
| Projectile vomiting |
1.5% |
1/68 |
| Rectal prolapse |
1.5% |
1/68 |
| Total colonic aganglionosis |
1.5% |
1/68 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
70.6% |
48/68 |
| Cryptorchidism |
20.6% |
14/68 |
| Hydronephrosis |
19.1% |
13/68 |
| Abnormality of the genital system |
8.8% |
6/68 |
| Clitoral hypertrophy |
8.8% |
6/68 |
| Hypospadias |
8.8% |
6/68 |
| Small scrotum |
8.8% |
6/68 |
| Abnormality of the kidney |
7.4% |
5/68 |
| Abnormal labia morphology |
5.9% |
4/68 |
| Bilateral cryptorchidism |
5.9% |
4/68 |
| Hypoplastic labia majora |
5.9% |
4/68 |
| Micropenis |
5.9% |
4/68 |
| Multicystic kidney dysplasia |
5.9% |
4/68 |
| Unilateral cryptorchidism |
4.4% |
3/68 |
| Abnormal scrotum morphology |
2.9% |
2/68 |
| Hypoplasia of the bladder |
2.9% |
2/68 |
| Recurrent urinary tract infections |
2.9% |
2/68 |
| Renal hypoplasia |
2.9% |
2/68 |
| Retractile testis |
2.9% |
2/68 |
| Abnormal renal morphology |
1.5% |
1/68 |
| Absent testis |
1.5% |
1/68 |
| Aplasia/Hypoplasia of the testes |
1.5% |
1/68 |
| Bicornuate uterus |
1.5% |
1/68 |
| Bifid scrotum |
1.5% |
1/68 |
| Bilateral renal hypoplasia |
1.5% |
1/68 |
| Dilatation of renal calices |
1.5% |
1/68 |
| Enlarged kidney |
1.5% |
1/68 |
| Hydrocele testis |
1.5% |
1/68 |
| Hyperplastic labia majora |
1.5% |
1/68 |
| Hypoplastic labia minora |
1.5% |
1/68 |
| Multiple renal cysts |
1.5% |
1/68 |
| Nephrolithiasis |
1.5% |
1/68 |
| Neurogenic bladder |
1.5% |
1/68 |
| obsolete Small scrotum |
1.5% |
1/68 |
| Oliguria |
1.5% |
1/68 |
| Renal insufficiency |
1.5% |
1/68 |
| Renal dysplasia |
1.5% |
1/68 |
| Shawl scrotum |
1.5% |
1/68 |
| Unilateral renal agenesis |
1.5% |
1/68 |
| Ureteropelvic junction obstruction |
1.5% |
1/68 |
| Vesicoureteral reflux |
1.5% |
1/68 |
| Skeleton |
|
|
| Skeletal abnormalities |
81.3% |
65/80 |
| Abnormal thumb morphology |
38.8% |
31/80 |
| Long toe |
27.5% |
22/80 |
| Knee flexion contracture |
18.8% |
15/80 |
| Flexion contracture |
16.3% |
13/80 |
| Talipes equinovarus |
16.3% |
13/80 |
| Abnormal patella morphology |
12.5% |
10/80 |
| Aplasia/Hypoplasia of the patella |
10.0% |
8/80 |
| Bilateral talipes equinovarus |
10.0% |
8/80 |
| Hip contracture |
10.0% |
8/80 |
| Patellar aplasia |
7.5% |
6/80 |
| Abnormal pelvic girdle bone morphology |
6.3% |
5/80 |
| Pectus excavatum |
6.3% |
5/80 |
| Long fingers |
5.0% |
4/80 |
| Narrow chest |
5.0% |
4/80 |
| obsolete Joint laxity |
5.0% |
4/80 |
| Clinodactyly of the 5th finger |
3.8% |
3/80 |
| Hip dislocation |
3.8% |
3/80 |
| Overlapping toe |
3.8% |
3/80 |
| Pes planus |
3.8% |
3/80 |
| Camptodactyly |
2.5% |
2/80 |
| Clinodactyly |
2.5% |
2/80 |
| Flexion contracture of finger |
2.5% |
2/80 |
| Genu valgum |
2.5% |
2/80 |
| Joint hypermobility |
2.5% |
2/80 |
| Knee dislocation |
2.5% |
2/80 |
| Long hallux |
2.5% |
2/80 |
| Scoliosis |
2.5% |
2/80 |
| Thoracolumbar scoliosis |
2.5% |
2/80 |
| Abnormal acetabulum morphology |
1.3% |
1/80 |
| Abnormal lumbar spine morphology |
1.3% |
1/80 |
| Abnormal pelvis bone ossification |
1.3% |
1/80 |
| Arachnodactyly |
1.3% |
1/80 |
| Bilateral postaxial polydactyly |
1.3% |
1/80 |
| Bilateral coxa valga |
1.3% |
1/80 |
| Broad thumb |
1.3% |
1/80 |
| Broad palm |
1.3% |
1/80 |
| Broad toe |
1.3% |
1/80 |
| Cervical spinal canal stenosis |
1.3% |
1/80 |
| Cervical C2/C3 vertebral fusion |
1.3% |
1/80 |
| Delayed patellar ossification |
1.3% |
1/80 |
| Distal lower limb amyotrophy |
1.3% |
1/80 |
| Distal arthrogryposis |
1.3% |
1/80 |
| Elbow flexion contracture |
1.3% |
1/80 |
| Enlarged joints |
1.3% |
1/80 |
| Kyphosis |
1.3% |
1/80 |
| Metacarpophalangeal joint contracture |
1.3% |
1/80 |
| Metatarsus adductus |
1.3% |
1/80 |
| Osteopenia |
1.3% |
1/80 |
| Patellar hypoplasia |
1.3% |
1/80 |
| Pes valgus |
1.3% |
1/80 |
| Preaxial hand polydactyly |
1.3% |
1/80 |
| Preaxial polydactyly |
1.3% |
1/80 |
| Proximal radio-ulnar synostosis |
1.3% |
1/80 |
| Short femur |
1.3% |
1/80 |
| Short 5th finger |
1.3% |
1/80 |
| Single transverse palmar crease |
1.3% |
1/80 |
| Skeletal muscle atrophy |
1.3% |
1/80 |
| Torticollis |
1.3% |
1/80 |
| 2-3 toe syndactyly |
1.3% |
1/80 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
48.4% |
15/31 |
| Wide intermamillary distance |
12.9% |
4/31 |
| Bilateral single transverse palmar creases |
6.5% |
2/31 |
| Hypoplastic toenails |
6.5% |
2/31 |
| Bifid nail |
3.2% |
1/31 |
| Bridged palmar crease |
3.2% |
1/31 |
| Cafe-au-lait spot |
3.2% |
1/31 |
| Cutis laxa |
3.2% |
1/31 |
| Cutis marmorata |
3.2% |
1/31 |
| Cyanosis |
3.2% |
1/31 |
| Edema |
3.2% |
1/31 |
| Few cafe-au-lait spots |
3.2% |
1/31 |
| Hypoplastic fingernail |
3.2% |
1/31 |
| Hypoplastic fifth toenail |
3.2% |
1/31 |
| Jaundice |
3.2% |
1/31 |
| Petechiae |
3.2% |
1/31 |
| Redundant neck skin |
3.2% |
1/31 |
| Seborrheic dermatitis |
3.2% |
1/31 |
| Single transverse palmar crease |
3.2% |
1/31 |
| Small nail |
3.2% |
1/31 |
| Thickened skin |
3.2% |
1/31 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
48.1% |
26/54 |
| Hypothyroidism |
16.7% |
9/54 |
| Abnormality of thyroid physiology |
14.8% |
8/54 |
| Elevated circulating thyroid-stimulating hormone concentration |
11.1% |
6/54 |
| Decreased response to growth hormone stimulation test |
1.9% |
1/54 |
| Hashimoto thyroiditis |
1.9% |
1/54 |
| Increased circulating insulin-like growth factor 1 concentration |
1.9% |
1/54 |
| Primary hypothyroidism |
1.9% |
1/54 |
| Abnormality of the metabolic system |
21.1% |
4/19 |
| Anemia |
10.5% |
2/19 |
| Acute disseminated intravascular coagulation |
5.3% |
1/19 |
| Elevated urinary vanillylmandelic acid |
5.3% |
1/19 |
| Elevated urinary homovanillic acid |
5.3% |
1/19 |
| Metabolic acidosis |
5.3% |
1/19 |
| Abnormality of the immune system |
33.3% |
3/9 |
| Chronic otitis media |
11.1% |
1/9 |
| Esophagitis |
11.1% |
1/9 |
| Recurrent otitis media |
11.1% |
1/9 |
| Neoplasia |
|
|
| Neoplasia |
14.3% |
1/7 |
| Neuroblastoma |
14.3% |
1/7 |