eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Comorbidity | C0008924|cleft lip |
| Sentences | 270 |
| PubMedID- 25105440 | Nonsyndromic cleft lip with or without cleft palate (nsclp) is a common congenital deformity, often associated with folate deficiency. |
| PubMedID- 23008150 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect with complex etiology reflecting the action of multiple genetic and environmental factors. |
| PubMedID- 26505415 | Non-syndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect. |
| PubMedID- 22223055 | The arizona birth defects monitoring program (abdmp) is mandated to collect data on several birth defects including oro-facial clefts such as cleft lip with and without cleft palate (cl) and cleft palate without cleft lip (cp). |
| PubMedID- 25711982 | The highest elevations in sex ratios (i.e., male preponderance) among isolated non-cardiac defects were for craniosynostosis (2.12), cleft lip with cleft palate (2.01), and cleft lip without cleft palate (1.78); the lowest sex ratios (female preponderance) were for choanal atresia (0.45), cloacal exstrophy (0.46), and holoprosencephaly (0.64). |
| PubMedID- 25953455 | Objective: non-syndromic cleft lip, with or without cleft palate (nscl/p) is a common craniofacial birth defect, characterised by an incomplete separation between nasal and oral cavities without any other congenital anomaly in humans. |
| PubMedID- 24804503 | The present study was aimed to explore the relationship of transforming growth factor (tgf) beta3 gene sfani polymorphism (rs3917201 locus) and non-syndromic cleft lip with or without cleft palate (nscl/p) in people of the uygur's nationality and han's in xinjiang, china. |
| PubMedID- 21044801 | Sumo1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in central european patients. |
| PubMedID- 20082468 | Our previous results indicated a moderate association between the methylenetetrahydrofolate reductase (mthfr) gene 677c-t variant and an increased risk of non-syndromic cleft lip with or without cleft palate (nscl/p) among the northern but not southern population in china, suggesting possible genetic heterogeneity in the etiology of nscl/p between these two populations. |
| PubMedID- 26198054 | Nonsyndromic cleft lip with or without cleft palate (nscl +/- p) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. |
| PubMedID- 24134478 | The total birth prevalence was 16.0 per 10,000 births for all orofacial clefts, 8.2 for cleft lip with or without cleft palate, and 7.8 for cleft palate. |
| PubMedID- 20087401 | We explored the 2-mb region around msx1, using a marker map of 393 single nucleotide polymorphisms (snps) in 297 cleft lip, with or without cleft palate, case-parent trios and 84 cleft palate trios from maryland, taiwan, singapore, and korea. |
| PubMedID- 25163644 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect of complex etiology. |
| PubMedID- 20681225 | There was bilateral cleft lip with cleft palate. |
| PubMedID- 20949503 | Clinical features include short stature, hypertelorism, low set ears, cleft lip with cleft palate, short neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right foot, four digits on left foot and growth delay. |
| PubMedID- 21859473 | The most common phenotypic features observed in these patients are mild to severe mental retardation, developmental delay, a high arched or cleft palate (in some cases with a cleft lip), and hypertelorism. |
| PubMedID- 22074045 | Background : isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology. |
| PubMedID- 22723972 | For haplotype analysis, we used a sliding-window approach and assessed isolated cleft lip with or without cleft palate (icl/p) separately from isolated cleft palate only (icpo). |
| PubMedID- 23509905 | Objective : to further confirm the association between two irf6 single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population. |
| PubMedID- 22976623 | The purpose of this study was to investigate the contribution of pax9 gene to the risk of nonsyndromic cleft lip with or without cleft palate (ns-cl/p). |
| PubMedID- 23017738 | Results: forty-three cases of fetal cleft lip with or without cleft palate were reviewed. |
| PubMedID- 20880515 | cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (cpo) groups were significantly different with those in the controls (p=0.004) and rs16260 aa genotype significantly increased the risk of cpo by 5.90-fold (or=6.90, 95% ci=1.47-32.40), providing the first evidence of cdh1 genetic variation in the etiology of cpo. |
| PubMedID- 22415108 | Methods: in a prospective cohort of 240,244 women enrolled between 1993 and 1995 in 1 northern and 2 southern provinces in china, we examined the risk of nonsyndromic cleft lip with or without cleft palate (cl/p) and cleft palate alone (cp) in relation to maternal use of 400 mug of folic acid without other vitamins. |
| PubMedID- 20170386 | Objective: to assess the possible association between tgfb3 allele variants and nonsyndromic cleft lip with or without cleft palate in a chilean population. |
| PubMedID- 21536809 | Main outcome measures: pnd and birth prevalence of selected congenital anomaly groups/subtypes (anencephaly, spina-bifida, serious cardiac, diaphragmatic hernia, gastroschisis, exomphalos, bilateral renal agenesis, lethal/severe skeletal dysplasia, cleft lip with or without cleft palate [cl + /- p]). |
| PubMedID- 22674314 | Objective: family histories were traced and socioeconomic risk factors were identified for non-syndromic cleft lip with or without cleft palate. |
| PubMedID- 21132229 | Results: high frequencies regional analysis showed the following significant results: pam: severe hypospadias; cen: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxial polydactyly and down syndrome; cuy: postaxial polydactyly; noa: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; pat: cleft lip without cleft palate. |
| PubMedID- 20662904 | Nonsyndromic cleft lip with or without cleft palate (ncl/p) is one of the most common craniofacial malformations; however, its aetiology is still unclear. |
| PubMedID- 23611445 | Objective : the aim was to evaluate gravidity 4+ (four or more gestations) as a risk factor for cleft lip with or without cleft palate in south america. |
| 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- 24652124 | Association between palatal index and cleft palate repair outcomes in patients with complete unilateral cleft lip and palate. |
| PubMedID- 25535458 | Results: the difference in median cleft lip with or without cleft palate among the three groups was significant. |
| PubMedID- 21425073 | Orofacial clefts, including cleft lip with or without cleft palate (cl (p)), are common congenital malformations, second only to clubfoot in frequency of occurrence. |
| PubMedID- 23940636 | Tgfa and irf6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast china. |
| PubMedID- 22072571 | Background: nonsyndromic cleft lip with or without cleft palate (ncl/p) is a common structural malformation with a complex and multifactorial etiology. |
| PubMedID- 20103790 | Detection rates between both health insurance schemes (public and nonpublic) did not show significant differences, but anencephaly, spina bifida, renourinary defects, and cleft lip with or without cleft palate were detected earlier in patients from nonpublic rather than in public hospitals. |
| PubMedID- 24799419 | Evidence from biological and human studies strongly supports a role for mmp and mp genes as candidate genes for non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 22490406 | Background: the receptor tyrosine kinase-like orphan receptor 2 (ror2) gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in humans. |
| PubMedID- 19860507 | Filipino explanatory models of cleft lip with or without cleft palate. |
| PubMedID- 25045080 | Background: the etiology of nonsyndromic cleft lip with or without cleft palate (nscl/p) is very complex and still not well elucidated. |
| 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- 23921572 | Nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common congenital deformity, often associated with missing or deformed teeth. |
| 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- 23512105 | A collection of 1,108 case-parent trios ascertained through an isolated, nonsyndromic cleft lip with or without cleft palate (cl/p) was used to replicate the findings from a genome-wide association study (gwas) conducted by beaty et al. |
| PubMedID- 21781438 | Evidence of an involvement of tfap2a gene in non-syndromic cleft lip with or without cleft palate: an italian study. |
| PubMedID- 20815715 | Unilateral cleft lip with cleft palate (41%) was the most frequent cleft subtype, followed by cleft lip and/or cleft alveolus (33%); isolated submucous cleft palate (1%) was the least frequent. |
| PubMedID- 20507242 | Prevalence at birth of cleft lip with or without cleft palate: data from the international perinatal database of typical oral clefts (ipdtoc). |
| PubMedID- 23961635 | Finally, most cases (5; 50%) of cleft lip with cleft palate were found in roi-et province, mostly in the central (muang) district. |
| PubMedID- 20544801 | Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. |
| PubMedID- 20572780 | cleft lip associated with cleft palate (clp) was the most common type of anomaly (53.5%), followed by isolated cleft lip (cl; 28.7%) and isolated cleft palate (cp; 17.8%). |