| Gender |
|
|
| Male |
45.7% |
37/81 |
| Female |
54.3% |
44/81 |
| General |
|
|
| Birth Length abnormalities |
4.9% |
4/81 |
| > P98 : Birth length greater than 97th percentile |
2.5% |
2/81 |
| < P3 : Birth length less than 3rd percentile |
2.5% |
2/81 |
| Birth Weight abnormalities |
4.9% |
4/81 |
| < P3 : Small for gestational age |
4.9% |
4/81 |
| Birth Head circumference abnormalities |
1.2% |
1/81 |
| < P3 : Congenital microcephaly |
1.2% |
1/81 |
| Current Height abnormalities |
13.6% |
11/81 |
| < P3 : Short stature |
12.3% |
10/81 |
| > P98 : Tall stature |
1.2% |
1/81 |
| Current Weight abnormalities |
16.0% |
13/81 |
| < P3 : Decreased body weight |
14.8% |
12/81 |
| > P98 : Increased body weight |
1.2% |
1/81 |
| Current Head circumference abnormalities |
40.7% |
33/81 |
| < P3 : Microcephaly |
39.5% |
32/81 |
| > P98 : Macrocephaly |
1.2% |
1/81 |
| Neurology |
|
|
| Neurological abnormalities |
87.3% |
48/55 |
| Muscular hypotonia |
69.1% |
38/55 |
| Seizures |
12.7% |
7/55 |
| Dysphagia |
9.1% |
5/55 |
| Nystagmus |
5.5% |
3/55 |
| Febrile seizures |
3.6% |
2/55 |
| Hypertonia |
3.6% |
2/55 |
| Areflexia of lower limbs |
1.8% |
1/55 |
| Decreased sensory nerve conduction velocity |
1.8% |
1/55 |
| Decreased motor nerve conduction velocity |
1.8% |
1/55 |
| Dystonia |
1.8% |
1/55 |
| Facial palsy |
1.8% |
1/55 |
| Hyporeflexia |
1.8% |
1/55 |
| Infantile axial hypotonia |
1.8% |
1/55 |
| Polyneuropathy |
1.8% |
1/55 |
| Severe muscular hypotonia |
1.8% |
1/55 |
| Behavioral problems |
60.9% |
14/23 |
| Behavioral abnormality |
17.4% |
4/23 |
| Anxiety |
13.0% |
3/23 |
| Drooling |
8.7% |
2/23 |
| Aggressive behavior |
4.3% |
1/23 |
| Attention deficit hyperactivity disorder |
4.3% |
1/23 |
| Autistic behavior |
4.3% |
1/23 |
| Borderline |
4.3% |
1/23 |
| Depression |
4.3% |
1/23 |
| Polyphagia |
4.3% |
1/23 |
| Brain abnormality |
77.8% |
42/54 |
| Agenesis of corpus callosum |
25.9% |
14/54 |
| Aplasia/Hypoplasia of the corpus callosum |
22.2% |
12/54 |
| Hypoplasia of the corpus callosum |
7.4% |
4/54 |
| Ventriculomegaly |
7.4% |
4/54 |
| Abnormality of lateral ventricle |
5.6% |
3/54 |
| Asymmetric ventricles |
3.7% |
2/54 |
| Colpocephaly |
3.7% |
2/54 |
| Delayed myelination |
3.7% |
2/54 |
| Dilation of lateral ventricles |
3.7% |
2/54 |
| Partial agenesis of the corpus callosum |
3.7% |
2/54 |
| Perivascular spaces |
3.7% |
2/54 |
| Periventricular gray matter heterotopia |
3.7% |
2/54 |
| Absent septum pellucidum |
1.9% |
1/54 |
| Arachnoid cyst |
1.9% |
1/54 |
| Cerebral hypomyelination |
1.9% |
1/54 |
| Cerebral palsy |
1.9% |
1/54 |
| Cerebral cortical atrophy |
1.9% |
1/54 |
| Cortical gyral simplification |
1.9% |
1/54 |
| Gliosis |
1.9% |
1/54 |
| Heterotopia |
1.9% |
1/54 |
| Hydrocephalus |
1.9% |
1/54 |
| Hypoplasia of the brainstem |
1.9% |
1/54 |
| Leukoencephalopathy |
1.9% |
1/54 |
| Pachygyria |
1.9% |
1/54 |
| Short corpus callosum |
1.9% |
1/54 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
40.8% |
31/76 |
| Low-set ears |
23.7% |
18/76 |
| Microtia |
11.8% |
9/76 |
| Low-set, posteriorly rotated ears |
5.3% |
4/76 |
| Cupped ear |
2.6% |
2/76 |
| Overfolded helix |
2.6% |
2/76 |
| Protruding ear |
2.6% |
2/76 |
| Small earlobe |
2.6% |
2/76 |
| Abnormality of the pinna |
1.3% |
1/76 |
| Periauricular skin pits |
1.3% |
1/76 |
| Thickened helices |
1.3% |
1/76 |
| Abnormality of the eye |
80.0% |
60/75 |
| Blepharophimosis |
52.0% |
39/75 |
| Ptosis |
33.3% |
25/75 |
| Nasolacrimal duct obstruction |
21.3% |
16/75 |
| Hypertelorism |
18.7% |
14/75 |
| Short palpebral fissure |
10.7% |
8/75 |
| Epicanthus |
9.3% |
7/75 |
| Downslanted palpebral fissures |
8.0% |
6/75 |
| Small palpebral fissure |
8.0% |
6/75 |
| Epicanthus inversus |
6.7% |
5/75 |
| Prominent epicanthal folds |
6.7% |
5/75 |
| Telecanthus |
6.7% |
5/75 |
| Sparse eyebrow |
5.3% |
4/75 |
| Bilateral ptosis |
2.7% |
2/75 |
| Infra-orbital crease |
2.7% |
2/75 |
| Synophrys |
2.7% |
2/75 |
| Upslanted palpebral fissure |
2.7% |
2/75 |
| Deeply set eye |
1.3% |
1/75 |
| Infra-orbital fold |
1.3% |
1/75 |
| Proptosis |
1.3% |
1/75 |
| Thick eyebrow |
1.3% |
1/75 |
| Unilateral ptosis |
1.3% |
1/75 |
| Abnormality of the nose |
61.3% |
46/75 |
| Bulbous nose |
29.3% |
22/75 |
| Wide nasal bridge |
18.7% |
14/75 |
| Depressed nasal bridge |
13.3% |
10/75 |
| Prominent nasal bridge |
6.7% |
5/75 |
| Broad nasal tip |
4.0% |
3/75 |
| Depressed nasal ridge |
4.0% |
3/75 |
| Anteverted nares |
2.7% |
2/75 |
| Short columella |
2.7% |
2/75 |
| Wide nose |
2.7% |
2/75 |
| Low hanging columella |
1.3% |
1/75 |
| Prominent nose |
1.3% |
1/75 |
| Short nose |
1.3% |
1/75 |
| Abnormality of the mouth |
74.7% |
56/75 |
| Micrognathia |
22.7% |
17/75 |
| Abnormality of the teeth |
16.0% |
12/75 |
| Cleft palate |
14.7% |
11/75 |
| High palate |
14.7% |
11/75 |
| Thin upper lip vermilion |
13.3% |
10/75 |
| Long philtrum |
9.3% |
7/75 |
| Narrow mouth |
9.3% |
7/75 |
| Microdontia |
8.0% |
6/75 |
| Bifid uvula |
5.3% |
4/75 |
| Pierre-Robin sequence |
4.0% |
3/75 |
| Deep philtrum |
2.7% |
2/75 |
| Mandibular prognathia |
2.7% |
2/75 |
| Open mouth |
2.7% |
2/75 |
| Retrognathia |
2.7% |
2/75 |
| Smooth philtrum |
2.7% |
2/75 |
| Widely spaced teeth |
2.7% |
2/75 |
| Abnormality of incisor morphology |
1.3% |
1/75 |
| Absent uvula |
1.3% |
1/75 |
| Agenesis of permanent maxillary lateral incisor |
1.3% |
1/75 |
| Broad uvula |
1.3% |
1/75 |
| Cleft soft palate |
1.3% |
1/75 |
| Dental crowding |
1.3% |
1/75 |
| Dental malocclusion |
1.3% |
1/75 |
| Diastema |
1.3% |
1/75 |
| Downturned corners of mouth |
1.3% |
1/75 |
| Everted lower lip vermilion |
1.3% |
1/75 |
| High, narrow palate |
1.3% |
1/75 |
| Hypodontia |
1.3% |
1/75 |
| Hypoplasia of teeth |
1.3% |
1/75 |
| Macroglossia |
1.3% |
1/75 |
| Microretrognathia |
1.3% |
1/75 |
| Narrow philtrum |
1.3% |
1/75 |
| Pointed chin |
1.3% |
1/75 |
| Protruding tongue |
1.3% |
1/75 |
| Short chin |
1.3% |
1/75 |
| Short philtrum |
1.3% |
1/75 |
| Thin vermilion border |
1.3% |
1/75 |
| Trismus |
1.3% |
1/75 |
| Wide mouth |
1.3% |
1/75 |
| 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 |
| Cortical 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 |
| Hypoplasia of the retina |
2.4% |
1/41 |
| Impaired smooth pursuit |
2.4% |
1/41 |
| Photophobia |
2.4% |
1/41 |
| Retinopathy |
2.4% |
1/41 |
| Severe Myopia |
2.4% |
1/41 |
| Heart |
|
|
| Abnormality of the heart |
58.0% |
40/69 |
| Atria septal defect |
27.5% |
19/69 |
| Abnormal heart morphology |
11.6% |
8/69 |
| Patent ductus arteriosus |
11.6% |
8/69 |
| Ventricular septal defect |
10.1% |
7/69 |
| Secundum atrial septal defect |
4.3% |
3/69 |
| Mitral regurgitation |
2.9% |
2/69 |
| Muscular ventricular septal defect |
2.9% |
2/69 |
| Right ventricular hypertrophy |
2.9% |
2/69 |
| Abnormality of the aortic arch |
1.4% |
1/69 |
| Cardiomegaly |
1.4% |
1/69 |
| Left aortic arch with retroesophageal right subclavian artery |
1.4% |
1/69 |
| Patent foramen ovale |
1.4% |
1/69 |
| Peripheral pulmonary artery stenosis |
1.4% |
1/69 |
| Right aortic arch with retroesophageal left subclavian artery |
1.4% |
1/69 |
| Supraventricular tachycardia |
1.4% |
1/69 |
| Tricuspid regurgitation |
1.4% |
1/69 |
| Pulmonary |
|
|
| Abnormality of the lungs |
68.6% |
24/35 |
| Laryngomalacia |
20.0% |
7/35 |
| Respiratory distress |
20.0% |
7/35 |
| Obstructive sleep apnea |
8.6% |
3/35 |
| Abnormal respiratory system morphology |
5.7% |
2/35 |
| Central apnea |
5.7% |
2/35 |
| Respiratory difficulties |
5.7% |
2/35 |
| Asthma |
2.9% |
1/35 |
| Laryngotracheomalacia |
2.9% |
1/35 |
| Neonatal respiratory distress |
2.9% |
1/35 |
| Pulmonary hypoplasia |
2.9% |
1/35 |
| Pulmonary edema |
2.9% |
1/35 |
| Respiratory tract infection |
2.9% |
1/35 |
| Sleep apnea |
2.9% |
1/35 |
| Tachypnea |
2.9% |
1/35 |
| Tracheomalacia |
2.9% |
1/35 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
77.6% |
52/67 |
| Feeding difficulties |
58.2% |
39/67 |
| Gastroesophageal reflux |
13.4% |
9/67 |
| Anteriorly placed anus |
7.5% |
5/67 |
| Anal atresia |
4.5% |
3/67 |
| Malrotation of small bowel |
4.5% |
3/67 |
| Chronic constipation |
3.0% |
2/67 |
| Constipation |
3.0% |
2/67 |
| Ileus |
3.0% |
2/67 |
| Anal stenosis |
1.5% |
1/67 |
| Enterocolitis |
1.5% |
1/67 |
| Feeding difficulties in infancy |
1.5% |
1/67 |
| Gastroparesis |
1.5% |
1/67 |
| Hepatomegaly |
1.5% |
1/67 |
| Intestinal atresia |
1.5% |
1/67 |
| Pancreatic hypoplasia |
1.5% |
1/67 |
| Polysplenia |
1.5% |
1/67 |
| Projectile vomiting |
1.5% |
1/67 |
| Rectal prolapse |
1.5% |
1/67 |
| Total colonic aganglionosis |
1.5% |
1/67 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
71.6% |
48/67 |
| Cryptorchidism |
20.9% |
14/67 |
| Hydronephrosis |
19.4% |
13/67 |
| Abnormality of the genital system |
9.0% |
6/67 |
| Clitoral hypertrophy |
9.0% |
6/67 |
| Hypospadias |
9.0% |
6/67 |
| Scrotal hypoplasia |
9.0% |
6/67 |
| Abnormality of the kidney |
7.5% |
5/67 |
| Abnormality of the labia |
6.0% |
4/67 |
| Bilateral cryptorchidism |
6.0% |
4/67 |
| Hypoplastic labia majora |
6.0% |
4/67 |
| Micropenis |
6.0% |
4/67 |
| Multicystic kidney dysplasia |
6.0% |
4/67 |
| Unilateral cryptorchidism |
4.5% |
3/67 |
| Abnormality of the scrotum |
3.0% |
2/67 |
| Hypoplasia of the bladder |
3.0% |
2/67 |
| Recurrent urinary tract infections |
3.0% |
2/67 |
| Renal hypoplasia |
3.0% |
2/67 |
| Retractile testis |
3.0% |
2/67 |
| Abnormal renal morphology |
1.5% |
1/67 |
| Aplasia/Hypoplasia of the testes |
1.5% |
1/67 |
| Aplasia of the testes |
1.5% |
1/67 |
| Bicornuate uterus |
1.5% |
1/67 |
| Bifid scrotum |
1.5% |
1/67 |
| Bilateral renal hypoplasia |
1.5% |
1/67 |
| Enlarged kidneys |
1.5% |
1/67 |
| Hydrocele testis |
1.5% |
1/67 |
| Hyperplastic labia majora |
1.5% |
1/67 |
| Hypoplastic labia minora |
1.5% |
1/67 |
| Megacalicosis |
1.5% |
1/67 |
| Multiple renal cysts |
1.5% |
1/67 |
| Nephrolithiasis |
1.5% |
1/67 |
| Neurogenic bladder |
1.5% |
1/67 |
| Oliguria |
1.5% |
1/67 |
| Renal insufficiency |
1.5% |
1/67 |
| Renal dysplasia |
1.5% |
1/67 |
| Shawl scrotum |
1.5% |
1/67 |
| Small scrotum |
1.5% |
1/67 |
| Unilateral renal agenesis |
1.5% |
1/67 |
| Ureteropelvic junction obstruction |
1.5% |
1/67 |
| Vesicoureteral reflux |
1.5% |
1/67 |
| Skeleton |
|
|
| Skeletal abnormalities |
82.3% |
65/79 |
| Abnormality of the thumb |
39.2% |
31/79 |
| Long toe |
27.8% |
22/79 |
| Knee flexion contracture |
19.0% |
15/79 |
| Flexion contracture |
16.5% |
13/79 |
| Talipes equinovarus |
16.5% |
13/79 |
| Abnormality of the patella |
12.7% |
10/79 |
| Aplasia/Hypoplasia of the patella |
10.1% |
8/79 |
| Bilateral talipes equinovarus |
10.1% |
8/79 |
| Hip contracture |
10.1% |
8/79 |
| Patellar aplasia |
7.6% |
6/79 |
| Abnormality of pelvic girdle bone morphology |
6.3% |
5/79 |
| Pectus excavatum |
6.3% |
5/79 |
| Joint laxity |
5.1% |
4/79 |
| Long fingers |
5.1% |
4/79 |
| Narrow chest |
5.1% |
4/79 |
| Clinodactyly of the 5th finger |
3.8% |
3/79 |
| Hip dislocation |
3.8% |
3/79 |
| Overlapping toe |
3.8% |
3/79 |
| Pes planus |
3.8% |
3/79 |
| Camptodactyly |
2.5% |
2/79 |
| Clinodactyly |
2.5% |
2/79 |
| Flexion contracture of finger |
2.5% |
2/79 |
| Genu valgum |
2.5% |
2/79 |
| Joint hypermobility |
2.5% |
2/79 |
| Knee dislocation |
2.5% |
2/79 |
| Long hallux |
2.5% |
2/79 |
| Scoliosis |
2.5% |
2/79 |
| Thoracolumbar scoliosis |
2.5% |
2/79 |
| Abnormality of the acetabulum |
1.3% |
1/79 |
| Abnormality of the lumbar spine |
1.3% |
1/79 |
| Abnormal pelvis bone ossification |
1.3% |
1/79 |
| Arachnodactyly |
1.3% |
1/79 |
| Bilateral coxa valga |
1.3% |
1/79 |
| Bilateral postaxial polydactyly |
1.3% |
1/79 |
| Broad palm |
1.3% |
1/79 |
| Broad toe |
1.3% |
1/79 |
| Broad thumb |
1.3% |
1/79 |
| Cervical spinal canal stenosis |
1.3% |
1/79 |
| Cervical vertebral fusion (C2/C3) |
1.3% |
1/79 |
| Delayed patellar ossification |
1.3% |
1/79 |
| Distal lower limb amyotrophy |
1.3% |
1/79 |
| Distal arthrogryposis |
1.3% |
1/79 |
| Elbow flexion contracture |
1.3% |
1/79 |
| Enlarged joints |
1.3% |
1/79 |
| Kyphosis |
1.3% |
1/79 |
| Metacarpophalangeal joint contracture |
1.3% |
1/79 |
| Metatarsus adductus |
1.3% |
1/79 |
| Osteopenia |
1.3% |
1/79 |
| Patellar hypoplasia |
1.3% |
1/79 |
| Preaxial hand polydactyly |
1.3% |
1/79 |
| Preaxial polydactyly |
1.3% |
1/79 |
| Proximal radio-ulnar synostosis |
1.3% |
1/79 |
| Short femur |
1.3% |
1/79 |
| Short 5th finger |
1.3% |
1/79 |
| Single transverse palmar crease |
1.3% |
1/79 |
| Skeletal muscle atrophy |
1.3% |
1/79 |
| Torticollis |
1.3% |
1/79 |
| Valgus foot deformity |
1.3% |
1/79 |
| 2-3 toe syndactyly |
1.3% |
1/79 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
50.0% |
15/30 |
| Wide intermamillary distance |
13.3% |
4/30 |
| Bilateral single transverse palmar creases |
6.7% |
2/30 |
| Hypoplastic toenails |
6.7% |
2/30 |
| Bifid nail |
3.3% |
1/30 |
| Bridged palmar crease |
3.3% |
1/30 |
| Cafe-au-lait spot |
3.3% |
1/30 |
| Cutis marmorata |
3.3% |
1/30 |
| Cutis laxa |
3.3% |
1/30 |
| Cyanosis |
3.3% |
1/30 |
| Edema |
3.3% |
1/30 |
| Few cafe-au-lait spots |
3.3% |
1/30 |
| Hypoplastic fingernail |
3.3% |
1/30 |
| Hypoplastic fifth toenail |
3.3% |
1/30 |
| Jaundice |
3.3% |
1/30 |
| Petechiae |
3.3% |
1/30 |
| Redundant neck skin |
3.3% |
1/30 |
| Seborrheic dermatitis |
3.3% |
1/30 |
| Single transverse palmar crease |
3.3% |
1/30 |
| Small nail |
3.3% |
1/30 |
| Thickened skin |
3.3% |
1/30 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
49.1% |
26/53 |
| Hypothyroidism |
17.0% |
9/53 |
| Abnormality of thyroid physiology |
15.1% |
8/53 |
| Thyroid-stimulating hormone excess |
11.3% |
6/53 |
| Growth hormone deficiency |
1.9% |
1/53 |
| Hashimoto thyroiditis |
1.9% |
1/53 |
| Increased serum insulin-like growth factor 1 {comment=\"HPO:probinson\"} |
1.9% |
1/53 |
| Primary hypothyroidism |
1.9% |
1/53 |
| Abnormality of the metabolic system |
22.2% |
4/18 |
| Anemia |
11.1% |
2/18 |
| Acute disseminated intravascular coagulation |
5.6% |
1/18 |
| Elevated urinary homovanillic acid |
5.6% |
1/18 |
| Elevated urinary vanillylmandelic acid |
5.6% |
1/18 |
| Metabolic acidosis |
5.6% |
1/18 |
| Abnormality of the immune system |
37.5% |
3/8 |
| Chronic otitis media |
12.5% |
1/8 |
| Esophagitis |
12.5% |
1/8 |
| Recurrent otitis media |
12.5% |
1/8 |
| Neoplasia |
|
|
| Neoplasia |
16.7% |
1/6 |
| Neuroblastoma |
16.7% |
1/6 |