eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Comorbidity | |cleft lip |
| Sentences | 270 |
| PubMedID- 21381882 | Cchd, anencephaly, spina bifida, congenial diaphragmatic hernia (cdh), omphalocele, gastroschisis, limb defects, cleft lip with or without cleft palate (cl/p) and isolated cleft palate were evaluated. |
| PubMedID- 22043487 | These results indicate that at least the 8q24 locus does not play a major role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate in east africa, supporting locus heterogeneity for susceptibility to this phenotype among different major populations of the world. |
| PubMedID- 23044548 | An application to a sequencing study for non-syndromic cleft lip with or without cleft palate (nscl/p) demonstrates its practical relevance. |
| PubMedID- 21303264 | Methods: retrospective chart review of cleft lip with or without cleft palate (cl/p) and cleft palate (cp) cases registered with the cleft and craniofacial team at children's hospital of new orleans, the surgical center that treated cleft cases in greater new orleans between 2004 and 2007. |
| PubMedID- 20020508 | Nonsyndromic cleft lip with or without cleft palate (clp) is a frequent craniofacial malformation caused by both genetic and environmental factors. |
| PubMedID- 24361572 | Evidence of the involvement of the dhfr gene in nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 21244519 | No evidence for a role of crispld2 in non-syndromic cleft lip with or without cleft palate in an italian population. |
| PubMedID- 23395979 | Our findings suggest that the duplicated segment predisposes for cleft lip with or without cleft palate (cl/p), or any of the other phenotypic features presented by the patient. |
| PubMedID- 24706492 | Nonsyndromic cleft lip with or without cleft palate: increased burden of rare variants within gremlin-1, a component of the bone morphogenetic protein 4 pathway. |
| PubMedID- 22953143 | Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia. |
| PubMedID- 26064247 | Gfa taq i polymorphism and cleft lip with or without cleft palate (cl/p) risk. |
| PubMedID- 22759670 | cleft lip with or without cleft palate (clp) and cleft palate only (cp) are severe disruptions affecting orofacial structures. |
| PubMedID- 23355017 | Objective: this study aims to evaluate the use of fetal brain magnetic resonance imaging (mri) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (cl/p). |
| PubMedID- 19536562 | These heterogeneous defects comprise cleft lip (cl), cl with cleft palate (cl/p), and cleft palate, sometimes observed in recognizable syndromes, with mendelian, chromosomal, or environmental pathogenesis. |
| PubMedID- 26110153 | Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. |
| PubMedID- 26322296 | Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations. |
| PubMedID- 22917484 | Objective: the objective of this study was to evaluate the association between the use of monotherapy topiramate in pregnancy and cleft lip with or without cleft palate (cl/p) in the offspring. |
| PubMedID- 22492558 | Investigation of sumo pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 25786657 | Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in europeans. |
| PubMedID- 24972815 | Non-syndromic cleft lip with or without cleft palate (nsclp) is a common complex birth defect. |
| PubMedID- 20828271 | This rose to 28% when only the cases of cleft lip with or without cleft palate (cl +/- p) were considered. |
| PubMedID- 21358192 | Genetic causes of nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 21781437 | Maternal c677t mthfr genotype has been identified as important factor in cleft lip with or without cleft palate (cl/p) etiology. |
| PubMedID- 26436110 | Nonsyndromic cleft lip with or without cleft palate (nsclp) is a common birth defect affecting 135,000 newborns worldwide each year. |
| PubMedID- 20023658 | We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (nscl/p) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 nscl/p triads. |
| PubMedID- 25780529 | Background: the methylenetetrahydrofolate reductase (mthfr) is thought to be involved in the development of nonsyndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 20572868 | Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in estonian patients. |
| PubMedID- 21297019 | This study investigated the association between the ofc1 genomic region and non-syndromic cleft lip with or without cleft palate in 90 malay father-mother-offspring trios. |
| PubMedID- 25798845 | cleft lip with or without cleft palate (cl/p) is the most commonly occurring craniofacial birth defect. |
| PubMedID- 24563486 | The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nscl/p) and nonsyndromic cleft palate only (nscpo). |
| PubMedID- 21434540 | The eec syndrome, consisting of ectrodactyly (e), ectodermal dysplasia (e) and cleft lip (c) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. |
| PubMedID- 23577250 | cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases. |
| PubMedID- 24800624 | Findings from random effects meta-analyses suggest no relationship between prenatal alcohol consumption and the occurrence of ofcs {pooled odds ratios for any alcohol intake and binge level drinking respectively: cleft lip with or without cleft palate 1.00 [95% confidence interval (ci) 0.86, 1.16] from 18,349 participants in 13 studies, 1.04 [95% ci 0.87, 1.24] [8763 individuals, 4 studies]; cleft palate only 1.05 [95% ci 0.92, 1.21] [21,459 individuals, 17 studies], 0.94 [95% ci 0.74, 1.21] [7730 participants, 4 studies]}. |
| PubMedID- 24382704 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is among the most frequently occurring congenital malformations worldwide. |
| PubMedID- 19839778 | Nonsyndromic cleft lip with or without cleft palate (nsclp) is one of the most common birth defects in humans with both genetic and environmental components involved in its expression. |
| PubMedID- 25155265 | Recently, the jumoji at-rich interaction domain 2 (jarid2) had been reported to be a novel candidate gene for non-syndromic cleft lip with or without cleft palate (cl/p). |
| PubMedID- 24252547 | Summary non-syndromic oral clefts comprising cleft lip with and without cleft palate (cl/p) and cleft palate only (cpo) are common birth defects worldwide. |
| PubMedID- 26336015 | The prevalence of cleft lip with or without cleft palate was 0.9 per 10000 children, achondroplasia was 0.7 per 10000, and dandy-walker syndrome was 0.4 per 10000. |
| PubMedID- 21113916 | The distribution of clefts was as follows: 18 (29%) cleft lip, 25 (40%) cleft lip with cleft palate, 17 (27%) cleft palate only, one median cleft and one atypical cleft. |
| PubMedID- 23664420 | There is increasing evidence that dietary folic acid deficiency in utero may increase the risk of developing the 'cleft lip with or without cleft palate' (cl+/-p) variant of orofacial cleft. |
| PubMedID- 25808365 | Methods: to test the role of these polymorphisms in nonsyndromic cleft lip with or without cleft palate (nscl/p) in the brazilian population, we conducted a study combining a family-based association test (transmission disequilibrium test) and a structured association analysis (case-control study) based on the individual ancestry proportions. |
| PubMedID- 21781440 | Evidence of lef1 fetal-maternal interaction in cleft lip with or without cleft palate in a consistent italian sample study. |
| PubMedID- 25059012 | Genetic risk score for nonsyndromic cleft lip with or without cleft palate for a chilean population. |
| PubMedID- 25081408 | Genome-wide association studies (gwas) for nonsyndromic cleft lip with or without cleft palate (nscl[p]) revealed significant association for common single nucleotide polymorphisms near genes involved in craniofacial development i.e., mafb, pax7, vax1, arhgap29 (abca4 locus), and irf6. |
| PubMedID- 22286446 | Having a cleft lip together with cleft palate was associated with fistula formation, whereas surgeon nationality and older age at surgery were not. |
| PubMedID- 21462296 | Background: nonsyndromic cleft lip with or without cleft palate (cl/p) is a common complex birth defect caused by the interaction between multiple genes and environmental factors. |
| PubMedID- 21176594 | [the correlation analysis between environmental factors, bone morphogenetic protein-4 and transforming growth factor beta-3 polymorphisms in nonsyndromic cleft lip with or without cleft palate]. |
| PubMedID- 24559046 | Results: we detect a strong signal of increased prevalence of isolated cleft lip with or without cleft palate in a single region of poland, the dolnoslaskie voivodeship. |
| PubMedID- 25663376 | Genome-wide association studies (gwas) for nonsyndromic cleft lip with or without cleft palate (cl/p) have identified multiple genes as important in the etiology of this common birth defect. |
| PubMedID- 20301704 | Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia. |