OFD8
MCID: ORF040
MIFTS: 50

Orofaciodigital Syndrome Viii (OFD8)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome Viii

MalaCards integrated aliases for Orofaciodigital Syndrome Viii:

Name: Orofaciodigital Syndrome Viii 56 12 52 29
Edwards Syndrome 56 12 74 52 25 58 36 54 15
Trisomy 18 12 52 25 58 15 71
Complete Trisomy 18 Syndrome 12 25 29 71
Ofd8 56 12 52 58
Orofaciodigital Syndrome 8 52 43 71
Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis 56 52
Oral-Facial-Digital Syndrome Type 8 52 58
Orofaciodigital Syndrome Type 8 52 58
Trisomy 18 Syndrome 25 43
Cleft Lip/palate with Abnormal Thumbs and Microcephaly 71
Oral-Facial-Digital Syndrome, Edwards Type 58
Oral-Facial-Digital Syndrome, Type Viii 56
Orofaciodigital Syndrome, Edwards Type 58
Oral Facial Digital Syndrome Type 8 52
Oral Facial Digital Syndrome 8 52
Chromosome 18 Duplication 58
Chromosome 18 Trisomy 52
Trisomy E Syndrome 25
Ofd Syndrome 8 52
E3 Trisomy 12
18 Trisomy 52
Ofds Viii 56
Ofds 8 52

Characteristics:

Orphanet epidemiological data:

58
trisomy 18
Inheritance: Not applicable; Prevalence: 1-9/100000 (Austria),1-9/100000 (Hungary),1-5/10000 (Ireland),1-9/100000 (Italy),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (France),1-9/100000 (Belgium),1-9/100000 (Germany),1-5/10000 (Malta),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Japan),1-5/10000; Age of onset: Antenatal,Neonatal; Age of death: early childhood;
orofaciodigital syndrome type 8
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
mild manifestations in carrier females (cleft lip, cleft tongue)

Inheritance:
x-linked recessive


HPO:

31
orofaciodigital syndrome viii:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Orofaciodigital Syndrome Viii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2755 Definition Oral-facial-digital syndrome , type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly , abnormal tibiae and/or radii, duplication of the halluces, short stature , and mild intellectual deficit. Epidemiology The syndrome has been described in one family with four affected males in three generations. Clinical description Increased susceptibility to respiratory infections has been noted. Etiology X-linked recessive transmission has been suggested, but the causative gene has not yet been identified. Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Viii, also known as edwards syndrome, is related to chromosomal triplication and triploidy. An important gene associated with Orofaciodigital Syndrome Viii is PAPPA (Pappalysin 1). The drugs Emtricitabine and Cobicistat have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and tongue, and related phenotypes are global developmental delay and narrow palate

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has material basis in X-linked recessive inheritance.

Genetics Home Reference : 25 Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.

KEGG : 36 Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The main clinical features include prenatal growth deficiency, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum, and major malformations (particularly involving the heart). Approximately 50% of newborns survive beyond 1 week while more than 90% do not survive beyond 1 years of age.

Wikipedia : 74 Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy... more...

More information from OMIM: 300484 PS311200

Related Diseases for Orofaciodigital Syndrome Viii

Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome X Orofaciodigital Syndrome V
Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv
Orofaciodigital Syndrome Ix Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Viii Orofaciodigital Syndrome I
Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Xi
Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv
Orofaciodigital Syndrome Xvi Orofaciodigital Syndrome Xvii
Orofaciodigital Syndrome Xviii Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13

Diseases related to Orofaciodigital Syndrome Viii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 316)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 31.7 PAPPA MALT1 AFP
2 triploidy 31.2 PAPPA CGA AFP
3 patau syndrome 31.1 ZIC2 SIX3 PLAC4 PCNA PAPPA FPR1
4 cystic lymphangioma 30.9 PCNA PAPPA AFP
5 anencephaly 30.8 ZIC2 SIX3 AFP
6 placenta disease 30.5 PAPPA CGA AFP
7 oligohydramnios 30.4 PCNA PAPPA CGA AFP
8 marginal zone b-cell lymphoma 30.4 MALT1 KDM4C IGHV4-38-2 BIRC3
9 lymphoma, mucosa-associated lymphoid type 30.3 MALT1 KDM4C IGHV4-38-2 BIRC3
10 nodal marginal zone lymphoma 30.3 KDM4C IGHV4-38-2
11 gastric lymphoma 30.1 MALT1 IGHV4-38-2 BIRC3
12 chromosome 18p deletion syndrome 30.1 ZIC2 DLGAP1-AS2 AGO2
13 chromosomal disease 29.9 PLAC4 PCNA PAPPA KDM4C AFP
14 semilobar holoprosencephaly 29.7 ZIC2 SIX3
15 hypoplastic left heart syndrome 11.6
16 microtia-anotia 11.6
17 orofaciodigital syndrome 11.3
18 developmental dysplasia of the hip 1 11.3
19 pancreas, annular 11.3
20 mosaic trisomy 13 10.7
21 polyembryoma 10.6 CGA AFP
22 mixed germ cell tumor 10.6 CGA AFP
23 sacrococcygeal teratoma 10.6 CGA AFP
24 testicular seminoma 10.6 CGA AFP
25 intermediate malignant teratoma 10.6 PAPPA AFP
26 ovarian mixed germ cell neoplasm 10.5 CGA AFP
27 gallbladder lymphoma 10.5 MALT1 BIRC3
28 ectopic pregnancy 10.4 PAPPA CGA AFP
29 testicular disease 10.4 KDM4C CGA AFP
30 alpha chain disease 10.4 MALT1 BIRC3
31 central nervous system lipoma 10.4 ZIC2 SIX3
32 patent ductus arteriosus 1 10.4
33 neonatal anemia 10.4 PCNA PAPPA LINC01547
34 twin-to-twin transfusion syndrome 10.4 PCNA PAPPA LINC01547
35 neural tube defects 10.4
36 holoprosencephaly 7 10.4 ZIC2 SIX3
37 holoprosencephaly 9 10.4 ZIC2 SIX3
38 midline interhemispheric variant of holoprosencephaly 10.4 ZIC2 SIX3
39 septopreoptic holoprosencephaly 10.4 ZIC2 SIX3
40 holoprosencephaly 1 10.4 ZIC2 SIX3
41 spleen cancer 10.3 MALT1 IGHV4-38-2 BIRC3
42 hepatoblastoma 10.3
43 holoprosencephaly 5 10.3 ZIC2 SIX3
44 holoprosencephaly 2 10.3 ZIC2 SIX3
45 leukocyte disease 10.3 MALT1 KDM4C IGHV4-38-2
46 alobar holoprosencephaly 10.3 ZIC2 SIX3
47 germ cell cancer 10.3 KDM4C CGA AFP
48 lobar holoprosencephaly 10.3 ZIC2 SIX3
49 holoprosencephaly 4 10.3 ZIC2 SIX3
50 cleft lip 10.3

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome Viii:



Diseases related to Orofaciodigital Syndrome Viii

Symptoms & Phenotypes for Orofaciodigital Syndrome Viii

Human phenotypes related to Orofaciodigital Syndrome Viii:

58 31 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000189
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
8 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
9 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
10 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
11 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
12 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
13 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
14 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
15 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
16 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
17 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
18 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
19 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
20 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
21 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
22 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
23 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
24 underdeveloped supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0009891
25 omphalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0001539
26 narrow pelvis bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003275
27 deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004097
28 pointed helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0100810
29 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
30 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
31 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
32 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
33 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
34 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
35 abnormality of the fontanelles or cranial sutures 58 31 frequent (33%) Frequent (79-30%) HP:0000235
36 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
37 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
38 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
39 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
40 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
41 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
42 esophageal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002032
43 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
44 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
45 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
46 abnormal morphology of female internal genitalia 31 frequent (33%) HP:0000008
47 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
48 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
49 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
50 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus

Head And Neck Mouth:
cleft palate
median cleft lip
high-arched palate
oral frenula
tongue lobulation
more
Skin Nails Hair Skin:
milia

Skeletal Hands:
polydactyly
syndactyly

Neurologic Central Nervous System:
developmental delay

Respiratory Larynx:
hypoplastic epiglottis

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
bifid nasal tip

Respiratory Lung:
recurrent aspiration pneumonia

Skeletal Feet:
syndactyly
bifid halluces
forked metatarsal

Skeletal Limbs:
short tibiae

Head And Neck Teeth:
absent teeth

Clinical features from OMIM:

300484

Drugs & Therapeutics for Orofaciodigital Syndrome Viii

Drugs for Orofaciodigital Syndrome Viii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Emtricitabine Approved, Investigational 143491-57-0 60877
2
Cobicistat Approved 1004316-88-4
3
Tenofovir Experimental, Investigational 147127-20-6 464205
4 Chorionic Gonadotropin
5 Elvitegravir, Cobicistat, Emtricitabine, Tenofovir Disoproxil Fumarate Drug C...
6 Antiviral Agents
7 Anti-HIV Agents
8 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination
9 Anti-Infective Agents
10 Anti-Retroviral Agents

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
2 Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation Unknown status NCT03680651
3 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00847990
4 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
5 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
6 Non-Invasive Chromosomal Evaluation of Trisomy Study Completed NCT02201862
7 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
8 Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and Pregnancy Outcomes in an 'All‐Risk' Population Completed NCT01663350
9 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
10 Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00971334
11 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
12 Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies Completed NCT03200041
13 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA CENTAUR® PREGNANCY ASSOCIATED PLASMA PROTEIN A and ADVIA Centaur® Free Beta Human Chorionic Gonadotropin ASSAYS Completed NCT03629795
14 PEGASUS: PErsonalized Genomics for Prenatal Aneuploidy Screening USing Maternal Blood Completed NCT01925742
15 DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA Completed NCT01966991
16 A Prospective, Multi-center Observational Study With Blinded, Nested Case:Control Analyses to Evaluate the Performance of the Verinata Health Prenatal Aneuploidy Diagnostic Test Completed NCT01122524
17 Development of Non-invasive Prenatal Diagnostic Test Based on Fetal DNA Isolated From Maternal Blood Completed NCT01574781
18 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
19 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
20 Development of Non-invasive Prenatal Diagnostic Test for Microdeletion/Microduplication and Other Genetic Disorders Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
21 Development of a Computer-Aided Genetics Education Module (CAGEM) on Screening and Testing for Fetal Chromosome Conditions and Carrier Status: A Clinical Trial Recruiting NCT03449225
22 Ensuring Patients' Informed Access to Noninvasive Prenatal Testing Recruiting NCT03420274
23 Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS) Active, not recruiting NCT01545674
24 Whole Blood Specimen Collection From Pregnant Subjects Active, not recruiting NCT02430584
25 A Prospective Clinical Study to Evaluate a Novel Non-invasive Prenatal Screening Method for Characterizing Fetal Whole Chromosome Aberrations and Other Major Defects and Deletions Found in the Maternal Blood. Active, not recruiting NCT02317965
26 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457
27 The VALUE Study - Women & Infants as the Coordinating Center Active, not recruiting NCT03087357
28 Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13) Enrolling by invitation NCT03559374
29 A Retrospective Analysis of Fetal Outcome Compared to Massively Parallel Sequencing Test Results Obtained From Multiple Gestation Pregnancies at Increased Risk for Fetal Chromosomal Aneuploidy Terminated NCT02226315

Search NIH Clinical Center for Orofaciodigital Syndrome Viii

Cochrane evidence based reviews: trisomy 18 syndrome

Genetic Tests for Orofaciodigital Syndrome Viii

Genetic tests related to Orofaciodigital Syndrome Viii:

# Genetic test Affiliating Genes
1 Complete Trisomy 18 Syndrome 29
2 Orofaciodigital Syndrome Viii 29

Anatomical Context for Orofaciodigital Syndrome Viii

MalaCards organs/tissues related to Orofaciodigital Syndrome Viii:

40
Heart, Testes, Tongue, Bone, Whole Blood, Eye, Brain

Publications for Orofaciodigital Syndrome Viii

Articles related to Orofaciodigital Syndrome Viii:

(show top 50) (show all 209)
# Title Authors PMID Year
1
Oral-facial-digital syndromes, 1992. 56
8281288 1993
2
A male with type I orofaciodigital syndrome. 56
1941964 1991
3
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. 56
3229001 1988
4
Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency. 54 61
10360515 1999
5
Parental experience of hope in pediatric palliative care: Critical reflections on an exemplar of parents of a child with trisomy 18. 61
31899851 2020
6
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes. 61
31813999 2020
7
A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities. 61
31805817 2019
8
Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses. 61
31049649 2019
9
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD). 61
30317186 2018
10
Hypoxia due to positive pressure ventilation in Edwards' syndrome: A case report. 61
29125001 2018
11
[Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report]. 61
28895703 2017
12
A tumor profile in Patau syndrome (trisomy 13). 61
28544599 2017
13
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. 61
28328132 2017
14
Strawberry skull in Edwards syndrome. 61
30363185 2017
15
Edwards' syndrome. 61
27927129 2016
16
A tumor profile in Edwards syndrome (trisomy 18). 61
27474103 2016
17
Anesthetic management of a patient with Edwards syndrome. 61
27525073 2016
18
Genetic polymorphisms of loci D18S53, D18S59, and D18S488 in fetuses from a Chinese Tianjin Han population. 61
27323182 2016
19
An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18. 61
26453443 2016
20
Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome. 61
27490343 2016
21
Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series. 61
28174814 2016
22
Two-Dimensional Differential Gel Electrophoresis to Identify Protein Biomarkers in Amniotic Fluid of Edwards Syndrome (Trisomy 18) Pregnancies. 61
26752631 2016
23
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. 61
27617135 2015
24
Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. 61
26561224 2015
25
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures. 61
26324424 2015
26
Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma. 61
26400291 2015
27
Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil. 61
25388684 2015
28
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development. 61
26018729 2015
29
[Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21]. 61
26037359 2015
30
Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities. 61
26005269 2015
31
When Cri du chat syndrome meets Edwards syndrome. 61
25385231 2015
32
Aberrant "Barbed-Wire" Nuclear Projections of Neutrophils in Trisomy 18 (Edwards Syndrome). 61
26770846 2015
33
[Non-invasive prenatal testing: challenges for future implementation]. 61
26530119 2015
34
[Predictive value of abnormal second-trimester maternal serum triple screening markers for adverse pregnancy outcomes]. 61
25537246 2014
35
Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) syndrome: England and Wales 2005-2012. 61
24993362 2014
36
Birth prevalence and survival of exomphalos in england and wales: 2005 to 2011. 61
25178262 2014
37
[Prenatal diagnosis of trisomy 13 and trisomy 18: the experience of Assaf-Harofe Medical Center]. 61
25286634 2014
38
Pyramidal tract abnormalities in the human fetus and infant with trisomy 18 syndrome. 61
24313853 2014
39
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition? 61
24648351 2014
40
Microphthalmia in a case of Edward syndrome. 61
24460468 2014
41
Ruptured omphalocele mimicking gastroschisis in a fetus with Edwards syndrome. 61
24132880 2014
42
Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome). 61
24478819 2014
43
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS. 61
25426166 2014
44
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. 61
25593701 2014
45
Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature. 61
24715190 2014
46
Sonographic findings in partial type of trisomy 18. 61
24520506 2014
47
From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan. 61
24411028 2013
48
Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. 61
23949924 2013
49
Craniofacial abnormalities among patients with Edwards Syndrome. 61
24142310 2013
50
Trisomy 18 and neural tube defects. 61
23831245 2013

Variations for Orofaciodigital Syndrome Viii

Copy number variations for Orofaciodigital Syndrome Viii from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 119212 18 1 78077248 Copy number Trisomy 18 syndrome

Expression for Orofaciodigital Syndrome Viii

Search GEO for disease gene expression data for Orofaciodigital Syndrome Viii.

Pathways for Orofaciodigital Syndrome Viii

GO Terms for Orofaciodigital Syndrome Viii

Sources for Orofaciodigital Syndrome Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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