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Cleft lip with or without cleft palate

MedGen UID:
1842916
•Concept ID:
C0810364
•
Congenital Abnormality
Synonym: Tessier cleft number 1,2
 
Orphanet: ORPHA1991

Professional guidelines

PubMed

Thirty Years of Prenatal Cleft Diagnosis: What Have We Learned?
Steinberg JP, Gosain AK
Plast Reconstr Surg 2015 Sep;136(3):550-557. doi: 10.1097/PRS.0000000000001533. PMID: 26313826
Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review.
Maarse W, Bergé SJ, Pistorius L, van Barneveld T, Kon M, Breugem C, Mink van der Molen AB
Ultrasound Obstet Gynecol 2010 Apr;35(4):495-502. doi: 10.1002/uog.7472. PMID: 20235140
The multidisciplinary evaluation and management of cleft lip and palate.
Robin NH, Baty H, Franklin J, Guyton FC, Mann J, Woolley AL, Waite PD, Grant J
South Med J 2006 Oct;99(10):1111-20. doi: 10.1097/01.smj.0000209093.78617.3a. PMID: 17100032

Recent clinical studies

Etiology

Gene×environment associations in orofacial clefting.
Marazita ML
Curr Top Dev Biol 2023;152:169-192. Epub 2022 Nov 14 doi: 10.1016/bs.ctdb.2022.10.006. PMID: 36707211
Current concepts on cleft lip and palate etiology.
Candotto V, Oberti L, Gabrione F, Greco G, Rossi D, Romano M, Mummolo S
J Biol Regul Homeost Agents 2019 May-Jun;33(3 Suppl. 1):145-151. DENTAL SUPPLEMENT. PMID: 31538461
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis.
Tasanarong P, Pabalan N, Tharabenjasin P, Jarjanazi H
Oral Dis 2019 Sep;25(6):1492-1501. Epub 2019 Jun 25 doi: 10.1111/odi.13127. PMID: 31132300
Cleft lip and palate.
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC
Lancet 2009 Nov 21;374(9703):1773-85. Epub 2009 Sep 9 doi: 10.1016/S0140-6736(09)60695-4. PMID: 19747722
Genetics of cleft lip and palate.
Bender PL
J Pediatr Nurs 2000 Aug;15(4):242-9. doi: 10.1053/jpdn.2000.8148. PMID: 10969497

Diagnosis

MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis.
Tasanarong P, Pabalan N, Tharabenjasin P, Jarjanazi H
Oral Dis 2019 Sep;25(6):1492-1501. Epub 2019 Jun 25 doi: 10.1111/odi.13127. PMID: 31132300
Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands.
Fleurke-Rozema JH, van de Kamp K, Bakker MK, Pajkrt E, Bilardo CM, Snijders RJ
Ultrasound Obstet Gynecol 2016 Oct;48(4):458-463. Epub 2016 Sep 9 doi: 10.1002/uog.15834. PMID: 26663260
Evaluation and diagnosis of the dysmorphic infant.
Jones KL, Adam MP
Clin Perinatol 2015 Jun;42(2):243-61, vii-viii. doi: 10.1016/j.clp.2015.02.002. PMID: 26042903Free PMC Article
Cleft lip and palate.
Crockett DJ, Goudy SL
Facial Plast Surg Clin North Am 2014 Nov;22(4):573-86. Epub 2014 Aug 24 doi: 10.1016/j.fsc.2014.07.002. PMID: 25444729
Genetics of cleft lip and palate.
Bender PL
J Pediatr Nurs 2000 Aug;15(4):242-9. doi: 10.1053/jpdn.2000.8148. PMID: 10969497

Therapy

Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
Dardani C, Howe LJ, Mukhopadhyay N, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Weinberg SM, Marazita ML, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM, Sharp GC
Int J Epidemiol 2020 Aug 1;49(4):1282-1293. doi: 10.1093/ije/dyaa047. PMID: 32373937Free PMC Article
Current concepts on cleft lip and palate etiology.
Candotto V, Oberti L, Gabrione F, Greco G, Rossi D, Romano M, Mummolo S
J Biol Regul Homeost Agents 2019 May-Jun;33(3 Suppl. 1):145-151. DENTAL SUPPLEMENT. PMID: 31538461
Is a polymorphism in 10q25 associated with non-syndromic cleft lip with or without cleft palate? A meta-analysis based on limited evidence.
Li C, Li Z, Zeng X, Guo Z
Br J Oral Maxillofac Surg 2015 Jan;53(1):8-12. Epub 2014 Oct 6 doi: 10.1016/j.bjoms.2014.08.021. PMID: 25300891
Asthma in pregnancy: a hit for two.
Murphy VE, Schatz M
Eur Respir Rev 2014 Mar 1;23(131):64-8. doi: 10.1183/09059180.00008313. PMID: 24591663Free PMC Article
Diazepam effects on non-syndromic cleft lip with or without palate: epidemiological studies, clinical findings, genes and extracellular matrix.
Marinucci L, Balloni S, Carinci F, Locci P, Pezzetti F, Bodo M
Expert Opin Drug Saf 2011 Jan;10(1):23-33. Epub 2010 Jul 20 doi: 10.1517/14740338.2010.506478. PMID: 20645675

Prognosis

Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Recabarren AS, Marín NR, Blanco R
Reprod Sci 2020 Oct;27(10):1857-1862. Epub 2020 Jun 12 doi: 10.1007/s43032-020-00203-9. PMID: 32533457
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.
Shibano M, Watanabe A, Takano N, Mishima H, Kinoshita A, Yoshiura KI, Shibahara T
Cleft Palate Craniofac J 2020 Jan;57(1):80-87. Epub 2019 Jul 23 doi: 10.1177/1055665619857650. PMID: 31337262
Cleft lip and palate: review.
Ciminello FS, Morin RJ, Nguyen TJ, Wolfe SA
Compr Ther 2009 Spring;35(1):37-43. PMID: 19351103
Genetics of cleft lip and palate revisited.
Batra P, Duggal R, Parkash H
J Clin Pediatr Dent 2003 Summer;27(4):311-20. doi: 10.17796/jcpd.27.4.k7j3628944237392. PMID: 12924730
Genetics of cleft lip and palate.
Bender PL
J Pediatr Nurs 2000 Aug;15(4):242-9. doi: 10.1053/jpdn.2000.8148. PMID: 10969497

Clinical prediction guides

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
Sanchez MLN, Benjamin RH, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Lupo PJ, Agopian AJ
Cleft Palate Craniofac J 2022 Apr;59(4):417-426. Epub 2021 Apr 28 doi: 10.1177/10556656211010060. PMID: 33906455Free PMC Article
Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Recabarren AS, Marín NR, Blanco R
Reprod Sci 2020 Oct;27(10):1857-1862. Epub 2020 Jun 12 doi: 10.1007/s43032-020-00203-9. PMID: 32533457
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.
Shibano M, Watanabe A, Takano N, Mishima H, Kinoshita A, Yoshiura KI, Shibahara T
Cleft Palate Craniofac J 2020 Jan;57(1):80-87. Epub 2019 Jul 23 doi: 10.1177/1055665619857650. PMID: 31337262
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis.
Tasanarong P, Pabalan N, Tharabenjasin P, Jarjanazi H
Oral Dis 2019 Sep;25(6):1492-1501. Epub 2019 Jun 25 doi: 10.1111/odi.13127. PMID: 31132300
Genetics of cleft lip and palate revisited.
Batra P, Duggal R, Parkash H
J Clin Pediatr Dent 2003 Summer;27(4):311-20. doi: 10.17796/jcpd.27.4.k7j3628944237392. PMID: 12924730

Recent systematic reviews

Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis.
Amooee A, Dastgheib SA, Niktabar SM, Noorishadkam M, Lookzadeh MH, Mirjalili SR, Heiranizadeh N, Neamatzadeh H
Fetal Pediatr Pathol 2021 Aug;40(4):337-353. Epub 2019 Dec 27 doi: 10.1080/15513815.2019.1707918. PMID: 31880477
Association between methylenetetrahydrofolate reductase polymorphisms and non-syndromic cleft lip with or without palate susceptibility: an updated systematic review and meta-analysis.
Shu X, Shu S, Yang L
Br J Oral Maxillofac Surg 2019 Nov;57(9):819-830. Epub 2019 Jul 12 doi: 10.1016/j.bjoms.2019.06.016. PMID: 31303355
Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis.
Wattanawong K, Rattanasiri S, McEvoy M, Attia J, Thakkinstian A
Birth Defects Res A Clin Mol Teratol 2016 Sep;106(9):773-88. Epub 2016 Aug 11 doi: 10.1002/bdra.23540. PMID: 27511269Free PMC Article
Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.
Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915
Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review.
Maarse W, Bergé SJ, Pistorius L, van Barneveld T, Kon M, Breugem C, Mink van der Molen AB
Ultrasound Obstet Gynecol 2010 Apr;35(4):495-502. doi: 10.1002/uog.7472. PMID: 20235140

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