| Gender |
|
|
| Male |
55.3% |
26/47 |
| Female |
44.7% |
21/47 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/43 |
| Birth Weight abnormalities |
4.7% |
2/43 |
| < P3 : Small for gestational age |
2.3% |
1/43 |
| > P98 : Large for gestational age |
2.3% |
1/43 |
| Birth Head circumference abnormalities |
0% |
0/42 |
| Current Height abnormalities |
7.0% |
3/43 |
| < P3 : Short stature |
7.0% |
3/43 |
| Current Weight abnormalities |
0% |
0/43 |
| Current Head circumference abnormalities |
16.3% |
7/43 |
| < P3 : Microcephaly |
16.3% |
7/43 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
45/45 |
| Febrile seizures |
86.7% |
39/45 |
| Global developmental delay |
82.2% |
37/45 |
| Spasticity |
44.4% |
20/45 |
| Delayed myelination |
11.1% |
5/45 |
| Pachygyria |
4.4% |
2/45 |
| Abnormality of the fundus |
2.2% |
1/45 |
| Bilateral convulsive seizures |
2.2% |
1/45 |
| Complex febrile seizures |
2.2% |
1/45 |
| Epileptic spasms |
2.2% |
1/45 |
| Excessive daytime sleepiness |
2.2% |
1/45 |
| Focal seizures |
2.2% |
1/45 |
| Generalized seizures |
2.2% |
1/45 |
| obsolete Mental retardation, in some |
2.2% |
1/45 |
| Brain abnormality |
100.0% |
46/46 |
| Abnormality of the anterior fontanelle |
63.0% |
29/46 |
| Microcephaly |
63.0% |
29/46 |
| Ventriculomegaly |
56.5% |
26/46 |
| Aplasia/Hypoplasia of the corpus callosum |
45.7% |
21/46 |
| Cerebral cortical atrophy |
37.0% |
17/46 |
| Choroid plexus cyst |
28.3% |
13/46 |
| Abnormality of the corpus callosum |
13.0% |
6/46 |
| Polymicrogyria |
13.0% |
6/46 |
| Aplasia/Hypoplasia of the cerebellum |
4.3% |
2/46 |
| Hydrocephalus |
4.3% |
2/46 |
| Abnormality of the cerebral ventricles |
2.2% |
1/46 |
| Antenatal intracerebral hemorrhage |
2.2% |
1/46 |
| Aqueductal stenosis |
2.2% |
1/46 |
| Brain atrophy |
2.2% |
1/46 |
| Cavum septum pellucidum |
2.2% |
1/46 |
| Corpus callosum atrophy |
2.2% |
1/46 |
| Cortical dysplasia |
2.2% |
1/46 |
| Dolichocephaly |
2.2% |
1/46 |
| Dysplastic corpus callosum |
2.2% |
1/46 |
| Plagiocephaly |
2.2% |
1/46 |
| Short corpus callosum |
2.2% |
1/46 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
97.7% |
43/44 |
| Low-set ears |
84.1% |
37/44 |
| Abnormality of the pinna |
79.5% |
35/44 |
| Abnormality of earlobe |
2.3% |
1/44 |
| Large earlobe |
2.3% |
1/44 |
| Low-set, posteriorly rotated ears |
2.3% |
1/44 |
| Prominent antitragus |
2.3% |
1/44 |
| Uplifted earlobe |
2.3% |
1/44 |
| Abnormality of the eye |
100.0% |
44/44 |
| Hypertelorism |
81.8% |
36/44 |
| Large eyes |
75.0% |
33/44 |
| Alacrima |
38.6% |
17/44 |
| Slanting of the palpebral fissure |
38.6% |
17/44 |
| Abnormality of the fundus |
20.5% |
9/44 |
| Abnormality of the pinna |
6.8% |
3/44 |
| Shallow orbits |
6.8% |
3/44 |
| Strabismus |
6.8% |
3/44 |
| Abnormal shape of the palpebral fissure |
4.5% |
2/44 |
| Decreased corneal sensation |
4.5% |
2/44 |
| Infra-orbital crease |
4.5% |
2/44 |
| Abnormal fundus autofluorescence imaging |
2.3% |
1/44 |
| Abnormality of the optic disc |
2.3% |
1/44 |
| Blepharophimosis |
2.3% |
1/44 |
| Blue sclerae |
2.3% |
1/44 |
| Entropion |
2.3% |
1/44 |
| Myopia |
2.3% |
1/44 |
| Nystagmus |
2.3% |
1/44 |
| Optic atrophy |
2.3% |
1/44 |
| Abnormality of the nose |
97.7% |
43/44 |
| Short nose |
95.5% |
42/44 |
| Depressed nasal bridge |
4.5% |
2/44 |
| Anteverted nares |
2.3% |
1/44 |
| Prominent nose |
2.3% |
1/44 |
| Thin anteverted nares |
2.3% |
1/44 |
| Wide nose |
2.3% |
1/44 |
| Abnormality of the mouth |
92.9% |
39/42 |
| Microretrognathia |
52.4% |
22/42 |
| Macroglossia |
45.2% |
19/42 |
| Micrognathia |
9.5% |
4/42 |
| Infra-orbital crease |
7.1% |
3/42 |
| Choanal stenosis |
4.8% |
2/42 |
| Carious teeth |
2.4% |
1/42 |
| Retrognathia |
2.4% |
1/42 |
| Tongue fasciculations |
2.4% |
1/42 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
92.6% |
25/27 |
| Hearing impairment |
74.1% |
20/27 |
| Mid-frequency hearing loss |
7.4% |
2/27 |
| Sensorineural hearing impairment |
7.4% |
2/27 |
| Conductive hearing impairment |
3.7% |
1/27 |
| Abnormal vision |
84.6% |
22/26 |
| Abnormality of vision |
69.2% |
18/26 |
| Alacrima |
7.7% |
2/26 |
| Abnormality of the cornea |
3.8% |
1/26 |
| Abnormality of the fundus |
3.8% |
1/26 |
| Blindness |
3.8% |
1/26 |
| Cortical visual impairment |
3.8% |
1/26 |
| Hypermetropia |
3.8% |
1/26 |
| Heart |
|
|
| Abnormality of the heart |
44.2% |
19/43 |
| Abnormal heart morphology |
30.2% |
13/43 |
| Patent ductus arteriosus |
7.0% |
3/43 |
| Patent foramen ovale |
7.0% |
3/43 |
| Abnormality of the atrial septum |
4.7% |
2/43 |
| Abnormality of the cardiac septa |
2.3% |
1/43 |
| Atria septal defect |
2.3% |
1/43 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
23.5% |
8/34 |
| Abnormality of the epiglottis |
2.9% |
1/34 |
| Abnormality of the genital system |
2.9% |
1/34 |
| Aplasia/Hypoplasia of the pancreas |
2.9% |
1/34 |
| Diastasis recti |
2.9% |
1/34 |
| Gastrointestinal dysmotility |
2.9% |
1/34 |
| Gastroesophageal reflux |
2.9% |
1/34 |
| Hepatic steatosis |
2.9% |
1/34 |
| Hydronephrosis |
2.9% |
1/34 |
| Laryngomalacia |
2.9% |
1/34 |
| Posteriorly placed anus |
2.9% |
1/34 |
| Vocal cord paralysis |
2.9% |
1/34 |
| Vomiting |
2.9% |
1/34 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
97.8% |
45/46 |
| Hydronephrosis |
95.7% |
44/46 |
| Abnormality of the genital system |
76.1% |
35/46 |
| Hypospadias |
8.7% |
4/46 |
| Megacalicosis |
6.5% |
3/46 |
| Nephrolithiasis |
6.5% |
3/46 |
| Cryptorchidism |
4.3% |
2/46 |
| Hypoplastic labia majora |
4.3% |
2/46 |
| Abnormality of the penis |
2.2% |
1/46 |
| Abnormal external genitalia |
2.2% |
1/46 |
| Abnormality of the labia majora |
2.2% |
1/46 |
| Abnormality of renal calyx morphology |
2.2% |
1/46 |
| Abnormal genital system morphology |
2.2% |
1/46 |
| Bladder diverticulum |
2.2% |
1/46 |
| Choanal stenosis |
2.2% |
1/46 |
| Clitoral hypertrophy |
2.2% |
1/46 |
| Enlarged labia minora |
2.2% |
1/46 |
| Hepatosplenomegaly |
2.2% |
1/46 |
| Hydrocele testis |
2.2% |
1/46 |
| Hydroureter |
2.2% |
1/46 |
| Hypoplasia of penis |
2.2% |
1/46 |
| Inverted nipples |
2.2% |
1/46 |
| Partially duplicated kidney |
2.2% |
1/46 |
| Penoscrotal transposition |
2.2% |
1/46 |
| Polycystic kidney dysplasia |
2.2% |
1/46 |
| Urogenital sinus anomaly |
2.2% |
1/46 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
43/43 |
| Broad ribs |
62.8% |
27/43 |
| Short neck |
51.2% |
22/43 |
| Shortening of all distal phalanges of the fingers |
39.5% |
17/43 |
| Shortening of all distal phalanges of the toes |
39.5% |
17/43 |
| Abnormality of the metaphyses |
34.9% |
15/43 |
| Osteosclerosis of the base of the skull |
34.9% |
15/43 |
| Hypoplastic pubic bone |
32.6% |
14/43 |
| Long clavicles |
25.6% |
11/43 |
| Short 1st metacarpal |
25.6% |
11/43 |
| Massively thickened long bone cortices |
23.3% |
10/43 |
| Hypoplasia of first ribs |
18.6% |
8/43 |
| Wormian bones |
18.6% |
8/43 |
| Abnormality of the fontanelles or cranial sutures |
9.3% |
4/43 |
| Femoral bowing |
7.0% |
3/43 |
| Postaxial polydactyly |
7.0% |
3/43 |
| Scoliosis |
7.0% |
3/43 |
| Abnormal ossification of the pubic bone |
4.7% |
2/43 |
| Abnormality of the occipital bone |
4.7% |
2/43 |
| Abnormality of the distal phalanges of the toes |
4.7% |
2/43 |
| Hemivertebrae |
4.7% |
2/43 |
| Progressive sclerosis of skull base |
4.7% |
2/43 |
| Radioulnar synostosis |
4.7% |
2/43 |
| Rocker bottom foot |
4.7% |
2/43 |
| Sclerosis of skull base |
4.7% |
2/43 |
| Tibial bowing |
4.7% |
2/43 |
| Abnormality of the skull |
2.3% |
1/43 |
| Abnormality of the 1st metacarpal |
2.3% |
1/43 |
| Abnormality of the pubic bone |
2.3% |
1/43 |
| Abnormality of bony orbit of skull |
2.3% |
1/43 |
| Aplastic pubic bones |
2.3% |
1/43 |
| Aplasia/Hypoplasia of the distal phalanges of the toes |
2.3% |
1/43 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
2.3% |
1/43 |
| Bowed forearm bones |
2.3% |
1/43 |
| Congenital talipes calcaneovalgus |
2.3% |
1/43 |
| Craniosynostosis |
2.3% |
1/43 |
| Distal femoral metaphyseal abnormality |
2.3% |
1/43 |
| Enlarged metaphyses |
2.3% |
1/43 |
| Hip dysplasia |
2.3% |
1/43 |
| Horizontal ribs |
2.3% |
1/43 |
| Inguinal hernia |
2.3% |
1/43 |
| Large pelvis bone |
2.3% |
1/43 |
| Laryngotracheomalacia |
2.3% |
1/43 |
| Limited knee extension |
2.3% |
1/43 |
| Limited elbow extension |
2.3% |
1/43 |
| Narrow chest |
2.3% |
1/43 |
| Pectus carinatum |
2.3% |
1/43 |
| Polydactyly |
2.3% |
1/43 |
| Talipes calcaneovalgus |
2.3% |
1/43 |
| Talipes equinovarus |
2.3% |
1/43 |
| Unilambdoid synostosis |
2.3% |
1/43 |
| 4-5 finger syndactyly |
2.3% |
1/43 |
| 2-3 toe syndactyly |
2.3% |
1/43 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
73.2% |
30/41 |
| Hypertrichosis |
53.7% |
22/41 |
| Cutis marmorata |
7.3% |
3/41 |
| Generalized hypertrichosis |
7.3% |
3/41 |
| Abnormal dermatoglyphics |
2.4% |
1/41 |
| Abnormality of the palmar creases |
2.4% |
1/41 |
| Abnormality of the ribs |
2.4% |
1/41 |
| Central hypotonia |
2.4% |
1/41 |
| Facial hypertrichosis |
2.4% |
1/41 |
| Generalized hirsutism |
2.4% |
1/41 |
| Hyperconvex nail |
2.4% |
1/41 |
| Hyperconvex fingernails |
2.4% |
1/41 |
| Hypoplastic toenails |
2.4% |
1/41 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
20.8% |
5/24 |
| Hypothyroidism |
8.3% |
2/24 |
| Abnormality of cellular immune system |
4.2% |
1/24 |
| Anemia |
4.2% |
1/24 |
| Hemolytic anemia |
4.2% |
1/24 |
| Abnormality of the metabolic system |
80.0% |
32/40 |
| Failure to thrive |
80.0% |
32/40 |
| Abnormality of the immune system |
14.3% |
3/21 |
| Recurrent respiratory infections |
9.5% |
2/21 |
| Hemolytic anemia |
4.8% |
1/21 |
| Recurrent urinary tract infections |
4.8% |
1/21 |
| Neoplasia |
|
|
| Neoplasia |
37.5% |
15/40 |
| Facial hemangioma |
17.5% |
7/40 |
| Sacrococcygeal teratoma |
10.0% |
4/40 |
| Abnormality of the kidney |
2.5% |
1/40 |
| Ependymoma |
2.5% |
1/40 |
| Ependymoblastoma |
2.5% |
1/40 |
| Juvenile myelomonocytic leukemia |
2.5% |
1/40 |
| Primitive neuroectodermal tumor |
2.5% |
1/40 |