eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Comorbidity | |cleft lip |
| Sentences | 270 |
| PubMedID- 23555592 | Background: facial cleft deformities, including cleft lip with or without cleft palate (cl/p) and cleft palate (cp), are common congenital birth anomalies, especially in asia. |
| PubMedID- 22471252 | It has been possible to detect cleft lip (cl), with or without cleft palate (clp), using ultrasound (us) since the beginning of the 1980s. |
| PubMedID- 23679094 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is the most common orofacial birth defect with a wide range prevalence among different populations. |
| PubMedID- 20099315 | The dataset included 5821 controls, 1567 cases of cleft lip with or without cleft palate (cl+/-p) and 835 cases of cleft palate only. |
| PubMedID- 20500065 | Results: we report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited from a phenotypically normal mosaic parent. |
| PubMedID- 22404957 | Objective : to evaluate the long-term maxillomandibular changes after maxillary distraction osteogenesis in growing children having cleft lip with or without cleft palate. |
| PubMedID- 21638763 | Non-syndromic cleft lip with or without cleft palate (ns cl/p) is a complex disease in which heritability estimates vary widely depending on the population studied. |
| PubMedID- 21565678 | Objective: convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (nscl/p) and low intake of folic acid by the mother during pregnancy. |
| PubMedID- 20949506 | Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 20924451 | [1] the prevalence per 1000 total birth of cleft lip and/or with cleft palate ranges from around two in mongoloid populations to about 0.5 in negroid groups, and in caucasian populations the prevalence is about 1.2 per 1000 total birth. |
| PubMedID- 26215833 | The purpose of the study was to analyse polymorphic variants of the gch1 gene as risk factors for non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 20418035 | Fetal cleft lip with and without cleft palate: comparison between mr imaging and us for prenatal diagnosis. |
| PubMedID- 26123647 | Three probably pathogenic variants (c.760g>a [p.asp254asn], c.1023t>g [p.tyr341*], and c.2351g>a [p.arg784his]) segregated according to autosomal dominant inheritance in four nonsyndromic cleft lip with or without cleft palate (nscl/p) families (lod score: 5.8 at theta = 0; 47% penetrance). |
| PubMedID- 22522387 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common congenital malformation associated with genetic and environmental risk factors. |
| PubMedID- 21612398 | On the contrary, mthfr 1298 ac and 1298 ac/cc appeared to be protective against cleft lip with cleft palate. |
| PubMedID- 25220223 | Objectives: nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect which is strongly associated with genetic factors. |
| PubMedID- 22549767 | To demonstrate the application, we apply our method to candidate gene sequencing data from a german case-control study on nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 21254358 | Background: nonsyndromic cleft lip with or without cleft palate (nsclp) is a common birth defect that has a multifactorial etiology. |
| PubMedID- 24437588 | Cbs c.844ins68 polymorphism frequencies in control populations: implications on nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 20506229 | Nonsyndromic cleft lip with or without cleft palate (cl/p) affects approximately 1 in 1,000 births. |
| PubMedID- 20634891 | We analyzed isolated cleft lip with or without cleft palate (icl/p) and isolated cleft palate only (icp) separately and assessed replication by looking for genes detected in both populations by both methods. |
| PubMedID- 20662919 | Non-syndromic cleft lip with or without cleft palate (nsclp) is the most common craniofacial birth defect. |
| PubMedID- 21689018 | No significant association was found between nsoc and rs3821949 or rs12532 in msx1 gene, whereas an association was observed between the p147q variant and cleft lip with cleft palate in the case-control analysis. |
| PubMedID- 25300891 | Non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common defects in the human facial structure. |
| PubMedID- 21989583 | Nonsyndromic cleft lip with or without cleft palate or isolated cleft palate show an incomplete separation of the oral cavity and the nasal space without any additional malformations. |
| PubMedID- 25496823 | Preliminary evidence of an interaction between the crispld2 gene and non-syndromic cleft lip with or without cleft palate (nscl/p) in xinjiang uyghur population, china. |
| PubMedID- 24446087 | Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the brazilian population. |
| PubMedID- 24862802 | Conclusion: cleft lip with/without cleft palate and ventricular septal defects were significantly associated with a lower socioeconomic level. |
| PubMedID- 20635363 | Based on association and sequencing studies, investigators have postulated muscle segment homeobox 1 (msx1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (nsclp). |
| PubMedID- 25303326 | Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is a common disorder with complex etiology. |
| PubMedID- 23893927 | Methods: data on 6045 nonsyndromic isolated oral cleft cases (3915 cleft lip with or without cleft palate [cl +/- p] and 2130 nonsyndromic isolated cleft palate [cp] cases) delivered between 1999 and 2008 were obtained from the texas birth defects registry. |
| PubMedID- 23081944 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is one of the most common of all congenital anomalies, and has a multifactorial etiology involving both environmental and genetic factors. |
| PubMedID- 24942095 | Non-syndromic cleft lip with or without cleft palate (nscl/p) is the most common craniofacial malformation, with an incidence of about 1/700 live births, although variable according to ethnicity. |
| PubMedID- 24606907 | Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is a common structural malformation with a complex and multifactorial aetiology. |
| PubMedID- 24437584 | Objective: nonsyndromic cleft lip with or without cleft palate (nscl+/-p) is a common craniofacial anomaly of complex etiology in people. |
| PubMedID- 21781441 | Study of the 12q13 region in nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 21254359 | Background: nonsyndromic cleft lip with or without cleft palate (nsclp) is a common complex birth defect. |
| PubMedID- 20526256 | Background: the purpose of this study is to follow the familial incidence of non-syndromic or isolated cleft lip, with or without cleft palate (nscl/p), and to analyze the relationships between the type of nscl/p in the affected individual and his/her parent, looking at children in the first grade. |
| PubMedID- 23136939 | The odds of maternal occupational exposure to polycyclic aromatic hydrocarbons (any versus none) during pregnancy was increased for cleft lip with or without cleft palate cases as compared with controls (odds ratio, 1.69; 95% confidence interval, 1.18 to 2.40); the odds ratio was 1.47 (95% confidence interval 1.02 to 2.12) when adjusted for maternal education. |
| PubMedID- 24838934 | The aim of this study was to evaluate the association between nucleotide variants of cdh1 and the risk of non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 23991581 | [association between single nucleotide polymorphism in wnt3 and nonsyndromic cleft lip with or without cleft palate in hui and han population of ningxia autonomous region]. |
| PubMedID- 25713581 | We apply pix-lrt to publically available data from an international consortium of genotyped families affected by the birth defect oral cleft and find a strong, internally-replicated signal for a snp marker related to cleft lip with or without cleft palate. |
| PubMedID- 24038802 | Nonsyndromic cleft lip with or without cleft palate (nscl/p), the most common type of orofacial clefting, is one of the most frequent congenital defects. |
| PubMedID- 25593972 | Second, to conduct a similar analysis per cleft type: cleft lip with or without cleft palate (cp), cp (including robin sequence). |
| PubMedID- 26454948 | [relationship between genetic polymorphisms of irf6 rs642961 and nonsysdromic cleft lip with or without cleft palate]. |
| PubMedID- 22887868 | Nonsyndromic cleft lip with or without cleft palate (nscl/p) is a complex disorder with a worldwide incidence estimated at 1:700. |
| PubMedID- 24375841 | Objective: to investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (cl +/- p), before and after the introduction in the netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diagnosis of facial clefts. |
| PubMedID- 22984993 | Non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common of all congenital malformations and has a multifactorial etiology. |
| PubMedID- 22455396 | The poliovirus receptor related-1 (pvrl1) gene encodes nectin-1, a cell-cell adhesion molecule (omim #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (clped1, omim #225000). |
| PubMedID- 26451072 | Methods: we used a population-based sample of 377 case-parent trios of cleft lip with or without cleft palate (cl/p) and 762 control-parent trios from norway (1996-2001) to investigate whether variants in gabbr2, ddc and chrna4 are associated with maternal first-trimester smoking and with clefting risk. |