| Gender |
|
|
| Male |
59.0% |
49/83 |
| Female |
41.0% |
34/83 |
| Indifferent |
0% |
0/83 |
| Unknown |
0% |
0/83 |
| General |
|
|
| Birth Length abnormalities |
18.5% |
25/135 |
| > P98 : Birth length greater than 97th percentile |
18.5% |
25/135 |
| Birth Weight abnormalities |
22.2% |
30/135 |
| > P98 : Large for gestational age |
22.2% |
30/135 |
| Birth Head circumference abnormalities |
14.1% |
19/135 |
| > P98 : Macrocephaly at birth |
14.1% |
19/135 |
| Current Height abnormalities |
61.5% |
83/135 |
| > P98 : Tall stature |
61.5% |
83/135 |
| Current Weight abnormalities |
54.1% |
73/135 |
| > P98 : Increased body weight |
54.1% |
73/135 |
| Current Head circumference abnormalities |
60.7% |
82/135 |
| > P98 : Macrocephaly |
60.7% |
82/135 |
| Neurology |
|
|
| Neurological abnormalities |
65.4% |
53/81 |
| Muscular hypotonia |
49.4% |
40/81 |
| Febrile seizures |
22.2% |
18/81 |
| Seizures |
12.3% |
10/81 |
| Delayed speech and language development |
4.9% |
4/81 |
| Expressive language delay |
2.5% |
2/81 |
| Generalized hypotonia |
2.5% |
2/81 |
| Abducens palsy |
1.2% |
1/81 |
| Brisk reflexes |
1.2% |
1/81 |
| Central hypoventilation |
1.2% |
1/81 |
| Complex febrile seizures |
1.2% |
1/81 |
| Delayed gross motor development |
1.2% |
1/81 |
| Dysarthria |
1.2% |
1/81 |
| Dysdiadochokinesis |
1.2% |
1/81 |
| Dysmetria |
1.2% |
1/81 |
| Dysphagia |
1.2% |
1/81 |
| Gait ataxia |
1.2% |
1/81 |
| Gowers sign |
1.2% |
1/81 |
| Muscular hypotonia of the trunk |
1.2% |
1/81 |
| Nystagmus |
1.2% |
1/81 |
| Poor fine motor coordination |
1.2% |
1/81 |
| Poor head control |
1.2% |
1/81 |
| Receptive language delay |
1.2% |
1/81 |
| Severe expressive language delay |
1.2% |
1/81 |
| Severe global developmental delay |
1.2% |
1/81 |
| Unsteady gait |
1.2% |
1/81 |
| Vertigo |
1.2% |
1/81 |
| Weak voice |
1.2% |
1/81 |
| Behavioral problems |
57.0% |
45/79 |
| Autism |
25.3% |
20/79 |
| Anxiety |
7.6% |
6/79 |
| Attention deficit hyperactivity disorder |
6.3% |
5/79 |
| Aggressive behavior |
5.1% |
4/79 |
| Depression |
5.1% |
4/79 |
| Developmental regression |
5.1% |
4/79 |
| Psychosis |
5.1% |
4/79 |
| Obsessive-compulsive behavior |
3.8% |
3/79 |
| Schizophrenia |
3.8% |
3/79 |
| Short attention span |
3.8% |
3/79 |
| Behavioral abnormality |
2.5% |
2/79 |
| Bipolar affective disorder |
2.5% |
2/79 |
| Polyphagia |
2.5% |
2/79 |
| Abnormal aggressive, impulsive or violent behavior |
1.3% |
1/79 |
| Auditory hallucinations |
1.3% |
1/79 |
| Autistic behavior |
1.3% |
1/79 |
| Hallucinations |
1.3% |
1/79 |
| Hyperactivity |
1.3% |
1/79 |
| Paranoia |
1.3% |
1/79 |
| Psychotic episodes |
1.3% |
1/79 |
| Stereotypic behavior |
1.3% |
1/79 |
| Brain abnormality |
26.1% |
18/69 |
| Arnold-Chiari type I malformation |
5.8% |
4/69 |
| Ventriculomegaly |
5.8% |
4/69 |
| Arnold-Chiari malformation |
4.3% |
3/69 |
| Hydrocephalus |
2.9% |
2/69 |
| Abnormality of lateral ventricle |
1.4% |
1/69 |
| Arachnoid cyst |
1.4% |
1/69 |
| Cerebral atrophy |
1.4% |
1/69 |
| Dilation of lateral ventricles |
1.4% |
1/69 |
| Fetal choroid plexus cysts |
1.4% |
1/69 |
| Frontotemporal cerebral atrophy |
1.4% |
1/69 |
| Intracranial cystic lesion |
1.4% |
1/69 |
| Preterm intraventricular hemorrhage |
1.4% |
1/69 |
| Thickened calvaria |
1.4% |
1/69 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
7.1% |
3/42 |
| Low-set ears |
4.8% |
2/42 |
| Large earlobe |
2.4% |
1/42 |
| Abnormality of the eye |
88.1% |
37/42 |
| Small palpebral fissure |
64.3% |
27/42 |
| Thick eyebrow |
64.3% |
27/42 |
| Horizontal eyebrow |
61.9% |
26/42 |
| Hypertelorism |
14.3% |
6/42 |
| Deeply set eye |
9.5% |
4/42 |
| Downslanted palpebral fissures |
9.5% |
4/42 |
| Epicanthus |
9.5% |
4/42 |
| Ptosis |
4.8% |
2/42 |
| Short palpebral fissure |
4.8% |
2/42 |
| Esotropia |
2.4% |
1/42 |
| Facial capillary hemangioma |
2.4% |
1/42 |
| Laterally extended eyebrow |
2.4% |
1/42 |
| Myopathic facies |
2.4% |
1/42 |
| Upslanted palpebral fissure |
2.4% |
1/42 |
| Abnormality of the nose |
28.6% |
12/42 |
| Anteverted nares |
9.5% |
4/42 |
| Depressed nasal bridge |
9.5% |
4/42 |
| Prominent nasal bridge |
4.8% |
2/42 |
| Thin anteverted nares |
4.8% |
2/42 |
| Short nasal bridge |
2.4% |
1/42 |
| Wide nasal base |
2.4% |
1/42 |
| Wide nasal bridge |
2.4% |
1/42 |
| Abnormality of the mouth |
51.2% |
22/43 |
| High palate |
20.9% |
9/43 |
| Deep philtrum |
11.6% |
5/43 |
| Dental crowding |
11.6% |
5/43 |
| Long philtrum |
7.0% |
3/43 |
| Thin upper lip vermilion |
7.0% |
3/43 |
| Gingival overgrowth |
4.7% |
2/43 |
| Agenesis of canine |
2.3% |
1/43 |
| Downturned corners of mouth |
2.3% |
1/43 |
| Hypodontia |
2.3% |
1/43 |
| Increased number of teeth |
2.3% |
1/43 |
| Macrodontia of permanent maxillary central incisor |
2.3% |
1/43 |
| Macroglossia |
2.3% |
1/43 |
| Mandibular prognathia |
2.3% |
1/43 |
| Micrognathia |
2.3% |
1/43 |
| Narrow mouth |
2.3% |
1/43 |
| Premature eruption of permanent teeth |
2.3% |
1/43 |
| Retrognathia |
2.3% |
1/43 |
| Tented upper lip vermilion |
2.3% |
1/43 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
14.8% |
12/81 |
| Myopia |
8.6% |
7/81 |
| Strabismus |
3.7% |
3/81 |
| Amblyopia |
1.2% |
1/81 |
| Astigmatism |
1.2% |
1/81 |
| Esotropia |
1.2% |
1/81 |
| Photophobia |
1.2% |
1/81 |
| Heart |
|
|
| Abnormality of the heart |
22.2% |
18/81 |
| Mitral regurgitation |
6.2% |
5/81 |
| Atria septal defect |
4.9% |
4/81 |
| Abnormality of the aortic valve |
2.5% |
2/81 |
| Aortic root dilatation |
2.5% |
2/81 |
| Patent ductus arteriosus |
2.5% |
2/81 |
| Abnormality of the mitral valve |
1.2% |
1/81 |
| Cardiomyopathy |
1.2% |
1/81 |
| Orthostatic tachycardia |
1.2% |
1/81 |
| Pericarditis |
1.2% |
1/81 |
| Supraventricular tachycardia with an accessory connection mediated pathway |
1.2% |
1/81 |
| Tricuspid regurgitation |
1.2% |
1/81 |
| Ventricular septal defect |
1.2% |
1/81 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
6.4% |
5/78 |
| Constipation |
5.1% |
4/78 |
| Gastroesophageal reflux |
2.6% |
2/78 |
| Chronic constipation |
1.3% |
1/78 |
| Gastrointestinal dysmotility |
1.3% |
1/78 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
22.0% |
18/82 |
| Cryptorchidism |
7.3% |
6/82 |
| Hydronephrosis |
3.7% |
3/82 |
| Polycystic ovaries |
3.7% |
3/82 |
| Recurrent urinary tract infections |
3.7% |
3/82 |
| Abnormality of the ovary |
1.2% |
1/82 |
| Hypospadias |
1.2% |
1/82 |
| Megacalicosis |
1.2% |
1/82 |
| Menorrhagia |
1.2% |
1/82 |
| Multiple renal cysts |
1.2% |
1/82 |
| Ovarian cyst |
1.2% |
1/82 |
| Testicular atrophy |
1.2% |
1/82 |
| Ureteral dysgenesis |
1.2% |
1/82 |
| Vesicoureteral reflux |
1.2% |
1/82 |
| Skeleton |
|
|
| Skeletal abnormalities |
78.8% |
63/80 |
| Joint hypermobility |
60.0% |
48/80 |
| Kyphoscoliosis |
25.0% |
20/80 |
| Pes planus |
10.0% |
8/80 |
| Long foot |
6.3% |
5/80 |
| Scoliosis |
5.0% |
4/80 |
| Large hands |
3.8% |
3/80 |
| Joint laxity |
2.5% |
2/80 |
| Talipes calcaneovalgus |
2.5% |
2/80 |
| Talipes valgus |
2.5% |
2/80 |
| Tapered finger |
2.5% |
2/80 |
| Accelerated skeletal maturation |
1.3% |
1/80 |
| Achilles tendon contracture |
1.3% |
1/80 |
| Bifid sternum |
1.3% |
1/80 |
| Broad hallux |
1.3% |
1/80 |
| Congenital diaphragmatic hernia |
1.3% |
1/80 |
| Cubitus valgus |
1.3% |
1/80 |
| Genu recurvatum |
1.3% |
1/80 |
| Genu valgum |
1.3% |
1/80 |
| Hallux valgus |
1.3% |
1/80 |
| Hemihypertrophy |
1.3% |
1/80 |
| Hip Subluxation |
1.3% |
1/80 |
| Knee dislocation |
1.3% |
1/80 |
| Lower limb asymmetry |
1.3% |
1/80 |
| Lumbar scoliosis |
1.3% |
1/80 |
| Metatarsus adductus |
1.3% |
1/80 |
| Osteochondritis Dissecans |
1.3% |
1/80 |
| Patellar subluxation |
1.3% |
1/80 |
| Pectus carinatum |
1.3% |
1/80 |
| Plagiocephaly |
1.3% |
1/80 |
| Sagittal craniosynostosis |
1.3% |
1/80 |
| Sandal gap |
1.3% |
1/80 |
| Sclerotic cranial sutures |
1.3% |
1/80 |
| Short toe |
1.3% |
1/80 |
| Shoulder dislocation |
1.3% |
1/80 |
| Slender finger |
1.3% |
1/80 |
| Talipes equinovarus |
1.3% |
1/80 |
| Turricephaly |
1.3% |
1/80 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
20.5% |
17/83 |
| Hirsutism |
3.6% |
3/83 |
| Skin rash |
3.6% |
3/83 |
| Synophrys |
3.6% |
3/83 |
| Low anterior hairline |
2.4% |
2/83 |
| Abnormality of the fingernails |
1.2% |
1/83 |
| Cutis laxa |
1.2% |
1/83 |
| Fine hair |
1.2% |
1/83 |
| Generalized hypertrichosis |
1.2% |
1/83 |
| Generalized hirsutism |
1.2% |
1/83 |
| High anterior hairline |
1.2% |
1/83 |
| Hypermelanotic macule |
1.2% |
1/83 |
| Hypertrichosis |
1.2% |
1/83 |
| Hyperkeratosis pilaris |
1.2% |
1/83 |
| Hypoplastic fifth toenail |
1.2% |
1/83 |
| Long eyelashes |
1.2% |
1/83 |
| Nail dysplasia |
1.2% |
1/83 |
| Preauricular skin tag |
1.2% |
1/83 |
| Sacral dimple |
1.2% |
1/83 |
| Soft skin |
1.2% |
1/83 |
| Sparse anterior scalp hair |
1.2% |
1/83 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
6.2% |
4/65 |
| Precocious puberty |
4.6% |
3/65 |
| Hyperthyroidism |
1.5% |
1/65 |
| Abnormality of the immune system |
1.4% |
1/73 |
| Acute myeloid leukemia |
1.4% |
1/73 |
| Neoplasia |
|
|
| Neoplasia |
11.4% |
9/79 |
| Lipoma |
3.8% |
3/79 |
| Benign neoplasm of the central nervous system |
1.3% |
1/79 |
| Cerebellar medulloblastoma |
1.3% |
1/79 |
| Enchondroma |
1.3% |
1/79 |
| Hemangioma |
1.3% |
1/79 |
| Neuroblastoma |
1.3% |
1/79 |
| Osteoma |
1.3% |
1/79 |
| Renal angiomyolipoma |
1.3% |
1/79 |