eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Symptom | |cleft lip |
| Sentences | 274 |
| PubMedID- 20815724 | Crispld2 variants including a c471t silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 20507242 | The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. |
| PubMedID- 25721952 | We stratified the descriptive results by cleft type cleft lip with cleft palate, cleft lip, and cleft palate and by isolated versus nonisolated ofc (accompanied by other coded major birth defects). |
| 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- 23774909 | Association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in chinese populations. |
| PubMedID- 21290562 | Results: risk of all clefts combined, including cleft lip with or without cleft palate (cl/p) and cleft palate only (cp), was 65% lower in the highest versus lowest pf quartile (odds ratio or, 0.35; 95% confidence interval ci, 0.23-0.53; p-trend < 0.001). |
| 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- 22565872 | Although muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of muenke syndrome to date. |
| 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- 21297019 | Non-syndromic cleft lip, with or without cleft palate, is a heterogeneous, complex disease with a high incidence in the asian population. |
| PubMedID- 21431856 | Our aim was to evaluate whether the transcription factor hand2 could be implicated in non-syndromic cleft lip with or without cleft palate (cl/p) aetiology. |
| PubMedID- 22346004 | The major symptoms include palmoplantar hyperkeratosis, sparse, coarse, wiry hair, small, sparse eyelashes, malformed nails, missing teeth (anodontia/oligodontia), cleft palate, sometimes with cleft lip and lid adhesions/ankyloblepharon. |
| PubMedID- 23167473 | Non-syndromic cleft lip with or without cleft palate (cl/p) is a common birth defect with a complex etiology. |
| PubMedID- 21248356 | cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with tbx22 mutations. |
| 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- 24559046 | In this study, we aim to evaluate the prevalence of isolated cleft lip with or without cleft palate in polish urban and rural environments in order to identify geographic areas with high prevalence (defect clusters). |
| PubMedID- 24563486 | The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nscl/p) and nonsyndromic cleft palate only (nscpo). |
| PubMedID- 22072571 | Polymorphisms of stress-related genes and the risk of nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 23611445 | When applying structural equation modeling, the effect of multigravidity on the risk of cleft lip with or without cleft palate was 1.22 and the 95% confidence interval was 0.91 to 1.39. |
| PubMedID- 21834040 | Contribution of variants in and near the irf6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a malay population. |
| PubMedID- 21980308 | We observed cleft palate with or without cleft lip in kia/kia and kia/tw mice with 50% and 90% penetrance, respectively (not shown). |
| PubMedID- 24097855 | We tested hypotheses that maternal exposure during the periconceptional period to multivitamins or liver consumption would decrease cleft lip with or without cleft palate (cl +/- p) risk and that menstrual regulation supplements would increase cl +/- p risk. |
| PubMedID- 26023668 | 1, the estimated incidence of cleft lip with cleft palate (clp) in the united states was 10.5 per 10,000 live births and that of cpo was 6.4 per 10,000 live births. |
| PubMedID- 20662919 | Non-syndromic cleft lip with or without cleft palate (nsclp) is the most common craniofacial birth defect. |
| PubMedID- 24380661 | The aim of our study was to determine whether there is any association between the susceptibility to nonsyndromic cleft lip with or without cleft palate (nscl/p) amongst the variations of mthfr genotypes in south indian population. |
| PubMedID- 22511506 | Background: nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. |
| PubMedID- 23304489 | All new cases of cleft lip, with cleft palate associated and cleft palate isolated from patients under one year of age, were included in this study. |
| 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- 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- 22138420 | Background: peri-conceptional use of folic acid contributes to protection against congenital malformations, such as neural tube defects and cleft lip with or without cleft palate (cl/p). |
| PubMedID- 20738159 | However, rarely studies have linked sumo1 to nonsyndromic cleft lip with or without cleft palate in humans. |
| PubMedID- 25059012 | Genetic risk score for nonsyndromic cleft lip with or without cleft palate for a chilean population. |
| PubMedID- 22863734 | We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (nscl/p) using data from the two largest genome-wide association studies published to date. |
| PubMedID- 20587169 | cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. |
| PubMedID- 20418035 | Fetal cleft lip with and without cleft palate: comparison between mr imaging and us for prenatal diagnosis. |
| PubMedID- 20572868 | Non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. |
| 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- 20170386 | Conclusions: allelic and haplotypic associations implicate a possible role of tgfb3 in nonsyndromic cleft lip with or without cleft palate in the chilean population. |
| PubMedID- 26042903 | The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and polydactyly. |
| PubMedID- 24862802 | Conclusion: cleft lip with/without cleft palate and ventricular septal defects were significantly associated with a lower socioeconomic level. |
| PubMedID- 24531247 | cleft lip with or without cleft palate (cl/p) is a relatively common craniofacial malformation involving bony and soft-tissue disruptions of the nasolabial and dentoalveolar regions. |
| PubMedID- 25496823 | Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect results from the genetic factors alone or interactions with environmental changes. |
| PubMedID- 21981552 | Objective: recent genome-wide association studies identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate (nscl+/-p) on 8q24.21, 10q25.3, 13q31.1, 15q13.3, 17q22, and 18q22 in populations of european origin. |
| PubMedID- 23227324 | Although cleft lip with cleft palate and cleft lip only are usually grouped into the same category, dixon et al. |
| PubMedID- 25853057 | cleft lip with or without cleft palate (cl/p) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. |
| 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- 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- 25339627 | Association between noggin and spry2 polymorphisms and nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 20878909 | Stratification by type of surveillance system showed that active programs had a higher prevalence of anencephaly, anophthalmia/microphthalmia, cleft lip with or without cleft palate, reduction defect of upper limbs, and trisomy 18. |
| PubMedID- 22043487 | Nonsyndromic cleft lip with or without cleft palate is a common birth defect with a wide range of prevalence among different populations, apparently highest in asians and amerindians and lowest in africans. |