| Gender |
|
|
| Male |
58.3% |
21/36 |
| Female |
41.7% |
15/36 |
| General |
|
|
| Birth Length abnormalities |
39.1% |
18/46 |
| < P3 : Birth length less than 3rd percentile |
39.1% |
18/46 |
| Birth Weight abnormalities |
47.8% |
22/46 |
| < P3 : Small for gestational age |
47.8% |
22/46 |
| Birth Head circumference abnormalities |
28.3% |
13/46 |
| < P3 : Congenital microcephaly |
28.3% |
13/46 |
| Current Height abnormalities |
87.0% |
40/46 |
| < P3 : Short stature |
87.0% |
40/46 |
| Current Weight abnormalities |
54.3% |
25/46 |
| < P3 : Decreased body weight |
54.3% |
25/46 |
| Current Head circumference abnormalities |
78.3% |
36/46 |
| > P98 : Macrocephaly |
8.7% |
4/46 |
| < P3 : Microcephaly |
69.6% |
32/46 |
| Neurology |
|
|
| Neurological abnormalities |
95.5% |
21/22 |
| Muscular hypotonia |
50.0% |
11/22 |
| Brisk reflexes |
31.8% |
7/22 |
| Seizures |
13.6% |
3/22 |
| Generalized hypotonia |
9.1% |
2/22 |
| Poor head control |
9.1% |
2/22 |
| Facial hypotonia |
4.5% |
1/22 |
| Febrile seizures |
4.5% |
1/22 |
| Focal myoclonic seizures |
4.5% |
1/22 |
| Limb hypertonia |
4.5% |
1/22 |
| Muscular hypotonia of the trunk |
4.5% |
1/22 |
| Oral motor hypotonia |
4.5% |
1/22 |
| Spasticity |
4.5% |
1/22 |
| Status epilepticus |
4.5% |
1/22 |
| Behavioral problems |
40.0% |
6/15 |
| Autism |
20.0% |
3/15 |
| Abnormal social behavior |
6.7% |
1/15 |
| Aggressive behavior |
6.7% |
1/15 |
| Attention deficit hyperactivity disorder |
6.7% |
1/15 |
| Brain abnormality |
87.0% |
20/23 |
| Abnormal cortical gyration |
39.1% |
9/23 |
| Agenesis of corpus callosum |
30.4% |
7/23 |
| Abnormality of the subarachnoid space |
21.7% |
5/23 |
| Abnormality of the corpus callosum |
21.7% |
5/23 |
| Cerebellar vermis hypoplasia |
17.4% |
4/23 |
| Cortical gyral simplification |
17.4% |
4/23 |
| Pachygyria |
17.4% |
4/23 |
| Frontotemporal cerebral atrophy |
13.0% |
3/23 |
| Arachnoid cyst |
8.7% |
2/23 |
| Encephalitis |
8.7% |
2/23 |
| Hypoplasia of the frontal lobes |
8.7% |
2/23 |
| Acute necrotizing encephalopathy |
4.3% |
1/23 |
| Cerebral edema |
4.3% |
1/23 |
| Cerebellar atrophy |
4.3% |
1/23 |
| Dysplastic corpus callosum |
4.3% |
1/23 |
| Gliosis |
4.3% |
1/23 |
| Hydrocephalus |
4.3% |
1/23 |
| Hypoplasia of the corpus callosum |
4.3% |
1/23 |
| Molar tooth sign on MRI |
4.3% |
1/23 |
| Partial agenesis of the corpus callosum |
4.3% |
1/23 |
| Ventriculomegaly |
4.3% |
1/23 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
46.9% |
15/32 |
| Low-set ears |
25.0% |
8/32 |
| Microtia |
18.8% |
6/32 |
| Absent earlobe |
15.6% |
5/32 |
| Small earlobe |
6.3% |
2/32 |
| Abnormality of the eye |
50.0% |
16/32 |
| Proptosis |
21.9% |
7/32 |
| Small palpebral fissure |
21.9% |
7/32 |
| Downslanted palpebral fissures |
18.8% |
6/32 |
| Hypertelorism |
18.8% |
6/32 |
| Telecanthus |
18.8% |
6/32 |
| Thick eyebrow |
18.8% |
6/32 |
| Sparse eyebrow |
15.6% |
5/32 |
| Large eyes |
9.4% |
3/32 |
| Upslanted palpebral fissure |
6.3% |
2/32 |
| Prominent eyelashes |
3.1% |
1/32 |
| Abnormality of the nose |
87.5% |
28/32 |
| Thin anteverted nares |
34.4% |
11/32 |
| Prominent nose |
21.9% |
7/32 |
| Broad nasal tip |
18.8% |
6/32 |
| Wide nasal bridge |
18.8% |
6/32 |
| Anteverted nares |
15.6% |
5/32 |
| Prominent nasal bridge |
9.4% |
3/32 |
| Depressed nasal bridge |
3.1% |
1/32 |
| Prominent nasal tip |
3.1% |
1/32 |
| Abnormality of the mouth |
90.9% |
30/33 |
| Thin upper lip vermilion |
51.5% |
17/33 |
| Long philtrum |
39.4% |
13/33 |
| Micrognathia |
36.4% |
12/33 |
| High palate |
18.2% |
6/33 |
| Thick vermilion border |
9.1% |
3/33 |
| Retrognathia |
6.1% |
2/33 |
| Dental crowding |
3.0% |
1/33 |
| Hypocalcification of dental enamel |
3.0% |
1/33 |
| Hypoplasia of dental enamel |
3.0% |
1/33 |
| Microdontia |
3.0% |
1/33 |
| Thick upper lip vermilion |
3.0% |
1/33 |
| Wide mouth |
3.0% |
1/33 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
36.8% |
7/19 |
| Sensorineural hearing impairment |
15.8% |
3/19 |
| Bilateral sensorineural hearing impairment |
10.5% |
2/19 |
| Abnormality of the tympanic membrane |
5.3% |
1/19 |
| Mild conductive hearing impairment |
5.3% |
1/19 |
| Sinusitis |
5.3% |
1/19 |
| Abnormal vision |
72.0% |
18/25 |
| Retinal dystrophy |
40.0% |
10/25 |
| Nyctalopia |
16.0% |
4/25 |
| Abnormality of retinal pigmentation |
12.0% |
3/25 |
| Astigmatism |
12.0% |
3/25 |
| Cataract |
4.0% |
1/25 |
| Chorioretinal atrophy |
4.0% |
1/25 |
| Myopia |
4.0% |
1/25 |
| Optic disc pallor |
4.0% |
1/25 |
| Photophobia |
4.0% |
1/25 |
| Retinal dystrophy with early macular involvement |
4.0% |
1/25 |
| Rod-cone dystrophy |
4.0% |
1/25 |
| Strabismus |
4.0% |
1/25 |
| Heart |
|
|
| Abnormality of the heart |
37.5% |
12/32 |
| Third degree atrioventricular block |
12.5% |
4/32 |
| Atria septal defect |
9.4% |
3/32 |
| Ventricular septal defect |
9.4% |
3/32 |
| Patent ductus arteriosus |
6.3% |
2/32 |
| Abnormality of cardiovascular system physiology |
3.1% |
1/32 |
| Bradycardia |
3.1% |
1/32 |
| Impaired left ventricular function |
3.1% |
1/32 |
| Noncompaction cardiomyopathy |
3.1% |
1/32 |
| Patent foramen ovale |
3.1% |
1/32 |
| Ventricular hypertrophy |
3.1% |
1/32 |
| Pulmonary |
|
|
| Abnormality of the lungs |
91.7% |
22/24 |
| Bronchiectasis |
33.3% |
8/24 |
| Recurrent upper and lower respiratory tract infections |
33.3% |
8/24 |
| Pneumonia |
20.8% |
5/24 |
| Recurrent pneumonia |
20.8% |
5/24 |
| Recurrent respiratory infections |
16.7% |
4/24 |
| Asthma |
8.3% |
2/24 |
| Pulmonary hypoplasia |
8.3% |
2/24 |
| Respiratory arrest |
8.3% |
2/24 |
| Bronchiolitis |
4.2% |
1/24 |
| Bronchitis |
4.2% |
1/24 |
| Chronic bronchitis |
4.2% |
1/24 |
| Pulmonary edema |
4.2% |
1/24 |
| Recurrent infections of the middle ear |
4.2% |
1/24 |
| Recurrent lower respiratory tract infections |
4.2% |
1/24 |
| Recurrent bronchitis |
4.2% |
1/24 |
| Respiratory tract infection |
4.2% |
1/24 |
| Respiratory failure |
4.2% |
1/24 |
| Respiratory distress |
4.2% |
1/24 |
| Restrictive lung disease |
4.2% |
1/24 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
70.8% |
17/24 |
| Hepatosplenomegaly |
37.5% |
9/24 |
| Feeding difficulties |
16.7% |
4/24 |
| Feeding difficulties in infancy |
8.3% |
2/24 |
| Recurrent infection of the gastrointestinal tract |
8.3% |
2/24 |
| Cholestatic liver disease |
4.2% |
1/24 |
| Chronic colitis |
4.2% |
1/24 |
| Chronic diarrhea |
4.2% |
1/24 |
| Conjugated hyperbilirubinemia |
4.2% |
1/24 |
| Diarrhea |
4.2% |
1/24 |
| Episodic vomiting |
4.2% |
1/24 |
| Gastroesophageal reflux |
4.2% |
1/24 |
| Hepatic fibrosis |
4.2% |
1/24 |
| Hepatic failure |
4.2% |
1/24 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
64.7% |
11/17 |
| Micropenis |
17.6% |
3/17 |
| Abnormality of the uterus |
11.8% |
2/17 |
| Abnormality of the fallopian tube |
11.8% |
2/17 |
| Hypergonadotropic hypogonadism |
11.8% |
2/17 |
| Hypospadias |
11.8% |
2/17 |
| Abnormality of the kidney |
5.9% |
1/17 |
| Abnormal renal morphology |
5.9% |
1/17 |
| Cryptorchidism |
5.9% |
1/17 |
| External genital hypoplasia |
5.9% |
1/17 |
| Small scrotum |
5.9% |
1/17 |
| Urachal cyst |
5.9% |
1/17 |
| Skeleton |
|
|
| Skeletal abnormalities |
95.5% |
42/44 |
| Brachydactyly syndrome |
59.1% |
26/44 |
| Abnormal bone ossification |
29.5% |
13/44 |
| Clinodactyly |
25.0% |
11/44 |
| Limb undergrowth |
25.0% |
11/44 |
| Short foot |
22.7% |
10/44 |
| Spondyloepiphyseal dysplasia |
22.7% |
10/44 |
| Short metacarpal |
20.5% |
9/44 |
| Small hand |
18.2% |
8/44 |
| Tapered finger |
18.2% |
8/44 |
| Abnormality of the acetabulum |
15.9% |
7/44 |
| Flexion contracture |
15.9% |
7/44 |
| Abnormal ossification of the pubic bone |
11.4% |
5/44 |
| Metaphyseal widening |
11.4% |
5/44 |
| Short palm |
11.4% |
5/44 |
| Multiple epiphyseal dysplasia |
9.1% |
4/44 |
| Platyspondyly |
9.1% |
4/44 |
| Abnormality of the palmar creases |
6.8% |
3/44 |
| Coxa vara |
6.8% |
3/44 |
| Epiphyseal dysplasia |
6.8% |
3/44 |
| Flat capital femoral epiphysis |
6.8% |
3/44 |
| Hypoplastic pubic bone |
6.8% |
3/44 |
| Irregularity of vertebral bodies |
6.8% |
3/44 |
| Congenital hip dislocation |
4.5% |
2/44 |
| Delayed skeletal maturation |
4.5% |
2/44 |
| Hip dislocation |
4.5% |
2/44 |
| Joint laxity |
4.5% |
2/44 |
| Scoliosis |
4.5% |
2/44 |
| Short femur |
4.5% |
2/44 |
| Short toe |
4.5% |
2/44 |
| 11 pairs of ribs |
4.5% |
2/44 |
| Abnormality of phalanx of finger |
2.3% |
1/44 |
| Abnormality of the distal tibial epiphysis |
2.3% |
1/44 |
| Abnormality of the distal femoral epiphysis |
2.3% |
1/44 |
| Abnormality of femoral epiphysis |
2.3% |
1/44 |
| Abnormality of epiphysis morphology |
2.3% |
1/44 |
| Aplasia of the phalanges of the toes |
2.3% |
1/44 |
| Broad femoral head |
2.3% |
1/44 |
| Broad metacarpals |
2.3% |
1/44 |
| Broad metatarsal |
2.3% |
1/44 |
| Carpal bone aplasia |
2.3% |
1/44 |
| Clinodactyly of the 5th finger |
2.3% |
1/44 |
| Coxa valga |
2.3% |
1/44 |
| Delayed epiphyseal ossification |
2.3% |
1/44 |
| Dislocated radial head |
2.3% |
1/44 |
| Disproportionate prominence of the femoral medial condyle |
2.3% |
1/44 |
| Distal femoral metaphyseal abnormality |
2.3% |
1/44 |
| Fibular hypoplasia |
2.3% |
1/44 |
| Flared metaphysis |
2.3% |
1/44 |
| Flattened femoral head |
2.3% |
1/44 |
| Flattened knee epiphyses |
2.3% |
1/44 |
| Flattened metacarpal heads |
2.3% |
1/44 |
| Flat acetabular roof |
2.3% |
1/44 |
| Genu valgum |
2.3% |
1/44 |
| Hip dysplasia |
2.3% |
1/44 |
| Hypoplastic iliac wing |
2.3% |
1/44 |
| Joint hypermobility |
2.3% |
1/44 |
| Limited elbow extension |
2.3% |
1/44 |
| Multiple joint contractures |
2.3% |
1/44 |
| Patellar subluxation |
2.3% |
1/44 |
| Patellar dislocation |
2.3% |
1/44 |
| Proximal placement of thumb |
2.3% |
1/44 |
| Proximal tibial hypoplasia |
2.3% |
1/44 |
| Proximal femoral metaphyseal irregularity |
2.3% |
1/44 |
| Short distal phalanx of finger |
2.3% |
1/44 |
| Short tibia |
2.3% |
1/44 |
| Short thumb |
2.3% |
1/44 |
| Short middle phalanx of finger |
2.3% |
1/44 |
| Small radial epiphyses |
2.3% |
1/44 |
| Talipes equinovalgus |
2.3% |
1/44 |
| 2-4 toe syndactyly |
2.3% |
1/44 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
91.7% |
33/36 |
| Dry skin |
16.7% |
6/36 |
| Eczema |
16.7% |
6/36 |
| Thick hair |
16.7% |
6/36 |
| Small nail |
13.9% |
5/36 |
| Sparse hair |
13.9% |
5/36 |
| Atopic dermatitis |
11.1% |
4/36 |
| Prolonged neonatal jaundice |
11.1% |
4/36 |
| Edema of the lower limbs |
8.3% |
3/36 |
| Ichthyosis |
8.3% |
3/36 |
| Scaling skin |
8.3% |
3/36 |
| Hyperkeratosis |
5.6% |
2/36 |
| Jaundice |
5.6% |
2/36 |
| Nail dysplasia |
5.6% |
2/36 |
| Congenital nonbullous ichthyosiform erythroderma |
2.8% |
1/36 |
| Cutis laxa |
2.8% |
1/36 |
| Edema |
2.8% |
1/36 |
| Joint laxity |
2.8% |
1/36 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
30.8% |
4/13 |
| Decreased serum insulin-like growth factor 1 |
23.1% |
3/13 |
| Thyroid-stimulating hormone excess |
15.4% |
2/13 |
| Diabetes insipidus |
7.7% |
1/13 |
| Diabetic ketoacidosis |
7.7% |
1/13 |
| Elevated follicle stimulating hormone |
7.7% |
1/13 |
| Hypothyroidism |
7.7% |
1/13 |
| Type I diabetes mellitus |
7.7% |
1/13 |
| Abnormality of the metabolic system |
36.4% |
4/11 |
| Elevated hepatic transaminases |
18.2% |
2/11 |
| Abnormality of erythrocytes |
9.1% |
1/11 |
| Exocrine pancreatic insufficiency |
9.1% |
1/11 |
| Hyperbilirubinemia |
9.1% |
1/11 |
| Reticulocytosis |
9.1% |
1/11 |
| Abnormality of the immune system |
82.8% |
24/29 |
| Specific antibody deficiency |
48.3% |
14/29 |
| Panhypogammaglobulinemia |
27.6% |
8/29 |
| Decreased memory B cell count |
13.8% |
4/29 |
| Increased naive B cell count |
13.8% |
4/29 |
| Recurrent infections |
13.8% |
4/29 |
| Recurrent infections of the middle ear |
13.8% |
4/29 |
| IgG deficiency |
10.3% |
3/29 |
| B lymphocytopenia |
6.9% |
2/29 |
| Lymphopenia |
6.9% |
2/29 |
| Severe B lymphocytopenia |
6.9% |
2/29 |
| Abnormal immunoglobulin level |
3.4% |
1/29 |
| Abnormality of T cell number |
3.4% |
1/29 |
| Abnormal immature B cell count |
3.4% |
1/29 |
| Abnormality of B cell number |
3.4% |
1/29 |
| Abnormal lymphocyte count |
3.4% |
1/29 |
| Autoimmune hemolytic anemia |
3.4% |
1/29 |
| Decreased number of CD4+ T cells |
3.4% |
1/29 |
| Extramedullary hematopoiesis |
3.4% |
1/29 |
| IgA deficiency |
3.4% |
1/29 |
| IgM deficiency |
3.4% |
1/29 |
| Otitis media |
3.4% |
1/29 |
| Recurrent fungal infections |
3.4% |
1/29 |
| Recurrent urinary tract infections |
3.4% |
1/29 |
| Recurrent sinusitis |
3.4% |
1/29 |
| Sepsis |
3.4% |
1/29 |