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Orofacial cleft 11(OFC11)

MedGen UID:
436944
•Concept ID:
C2677434
•
Disease or Syndrome
Synonyms: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11; OFC11; Orofacial cleft 11; ofc11
 
Gene (location): BMP4 (14q22.2)
 
Monarch Initiative: MONDO:0010906
OMIM®: 600625

Definition

Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (119530). [from OMIM]

Clinical features

From HPO
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
Cleft lip
MedGen UID:
1370297
•Concept ID:
C4321245
•
Anatomical Abnormality
A gap in the lip or lips.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.
Bromley R, Adab N, Bluett-Duncan M, Clayton-Smith J, Christensen J, Edwards K, Greenhalgh J, Hill RA, Jackson CF, Khanom S, McGinty RN, Tudur Smith C, Pulman J, Marson AG
Cochrane Database Syst Rev 2023 Aug 29;8(8):CD010224. doi: 10.1002/14651858.CD010224.pub3. PMID: 37647086Free PMC Article
Prenatal diagnosis of cleft lip and cleft lip palate - a case series.
Marginean C, Sasarean V, Marginean CO, Melit LE, Marginean MO
Med Ultrason 2018 Dec 8;20(4):531-535. doi: 10.11152/mu-1582. PMID: 30534664
Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome.
Mui Lee L, Ma L, Jun Li T
Cleft Palate Craniofac J 2017 May;54(3):338-342. doi: 10.1597/14-323. PMID: 28471735

Recent clinical studies

Etiology

Covid-19 infection and vaccination during first trimester and risk of congenital anomalies: Nordic registry based study.
Magnus MC, Söderling J, Örtqvist AK, Andersen AN, Stephansson O, Håberg SE, Urhoj SK
BMJ 2024 Jul 17;386:e079364. doi: 10.1136/bmj-2024-079364. PMID: 39019547
Follow-Up Care Barriers for Patients with Orofacial Clefts.
Van Swol J, Wolf BJ, Toumey J, Pecha P, Patel KG
Cleft Palate Craniofac J 2022 Oct;59(10):1213-1221. Epub 2021 Oct 22 doi: 10.1177/10556656211042162. PMID: 34678105Free PMC Article
Rare and Common Variants Conferring Risk of Tooth Agenesis.
Jonsson L, Magnusson TE, Thordarson A, Jonsson T, Geller F, Feenstra B, Melbye M, Nohr EA, Vucic S, Dhamo B, Rivadeneira F, Ongkosuwito EM, Wolvius EB, Leslie EJ, Marazita ML, Howe BJ, Moreno Uribe LM, Alonso I, Santos M, Pinho T, Jonsson R, Audolfsson G, Gudmundsson L, Nawaz MS, Olafsson S, Gustafsson O, Ingason A, Unnsteinsdottir U, Bjornsdottir G, Walters GB, Zervas M, Oddsson A, Gudbjartsson DF, Steinberg S, Stefansson H, Stefansson K
J Dent Res 2018 May;97(5):515-522. Epub 2018 Jan 24 doi: 10.1177/0022034517750109. PMID: 29364747Free PMC Article
Zebrafish models of orofacial clefts.
Duncan KM, Mukherjee K, Cornell RA, Liao EC
Dev Dyn 2017 Nov;246(11):897-914. Epub 2017 Sep 25 doi: 10.1002/dvdy.24566. PMID: 28795449Free PMC Article
Prevalence of Orofacial Clefts among Live Births in China: A Systematic Review and Meta-Analysis.
Wang M, Yuan Y, Wang Z, Liu D, Wang Z, Sun F, Wang P, Zhu H, Li J, Wu T, Beaty TH
Birth Defects Res 2017 Jul 17;109(13):1011-1019. Epub 2017 Jun 21 doi: 10.1002/bdr2.1043. PMID: 28635078Free PMC Article

Diagnosis

Review: Facial endophenotypes in non-syndromic orofacial clefting.
Roosenboom J, Claes P, Devriendt K, Dormaar T, Peeters H, Saey I, Schoenaers J, Vander Poorten V, Verdonck A, Hens G
B-ENT 2015;11(3):173-82. PMID: 26601549
The VACTERL Association as a disturbance of cell fate determination.
Lubinsky M
Am J Med Genet A 2015 Nov;167A(11):2582-8. Epub 2015 Jul 14 doi: 10.1002/ajmg.a.37238. PMID: 26174174
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.
Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky MS, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR
Hum Mutat 2015 Nov;36(11):1029-33. Epub 2015 Aug 3 doi: 10.1002/humu.22827. PMID: 26123647
Screening for maternal coeliac disease as a potential risk factor for orofacial clefts--a pilot study.
Reddy SG, Reddy RR, Vaidhyanathan A, Markus A, Snook J
Int J Oral Maxillofac Surg 2013 Nov;42(11):1424-6. Epub 2013 May 8 doi: 10.1016/j.ijom.2013.03.021. PMID: 23664420
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.
Veenstra-Knol HE, Kleibeuker A, Timmer A, ten Kate LP, van Essen AJ
Am J Med Genet A 2003 Dec 15;123A(3):243-8. doi: 10.1002/ajmg.a.20308. PMID: 14608644

Therapy

Low-Dose Cone-Beam Computed Tomography in Swedish Pediatric Patients With Alveolar Clefts Following Alveolar Bone Grafting-A Clinical Study.
Vicente A, Cederhag J, Rashidi N, Wiedel AP, Becker M, Brogårdh-Roth S, Shi XQ, Hellén-Halme K
Clin Exp Dent Res 2024 Dec;10(6):e70021. doi: 10.1002/cre2.70021. PMID: 39497332Free PMC Article
Covid-19 infection and vaccination during first trimester and risk of congenital anomalies: Nordic registry based study.
Magnus MC, Söderling J, Örtqvist AK, Andersen AN, Stephansson O, Håberg SE, Urhoj SK
BMJ 2024 Jul 17;386:e079364. doi: 10.1136/bmj-2024-079364. PMID: 39019547
Prevalence of Orofacial Clefts among Live Births in China: A Systematic Review and Meta-Analysis.
Wang M, Yuan Y, Wang Z, Liu D, Wang Z, Sun F, Wang P, Zhu H, Li J, Wu T, Beaty TH
Birth Defects Res 2017 Jul 17;109(13):1011-1019. Epub 2017 Jun 21 doi: 10.1002/bdr2.1043. PMID: 28635078Free PMC Article
Association of maternal pre-pregnancy weight with birth defects: evidence from a case-control study in Western Australia.
Oddy WH, De Klerk NH, Miller M, Payne J, Bower C
Aust N Z J Obstet Gynaecol 2009 Feb;49(1):11-5. doi: 10.1111/j.1479-828X.2008.00934.x. PMID: 19281573
Food fortification with folic acid: has the other shoe dropped?
Solomons NW
Nutr Rev 2007 Nov;65(11):512-5. doi: 10.1111/j.1753-4887.2007.tb00276.x. PMID: 18038944

Prognosis

Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Oladayo A, Gowans LJJ, Awotoye W, Alade A, Busch T, Naicker T, Eshete MA, Adeyemo WL, Hetmanski JB, Zeng E, Adamson O, Adeleke C, Li M, Sule V, Kayali S, Olotu J, Mossey PA, Obiri-Yeboah S, Buxo CJ, Beaty T, Taub M, Donkor P, Marazita ML, Odukoya O, Adeyemo AA, Murray JC, Prince A, Butali A
Mol Genet Genomic Med 2023 Oct;11(10):e2237. Epub 2023 Jul 26 doi: 10.1002/mgg3.2237. PMID: 37496383Free PMC Article
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU
J Dent Res 2017 Oct;96(11):1314-1321. Epub 2017 Aug 2 doi: 10.1177/0022034517722761. PMID: 28767323
Improvement of quality of speech in patients with velo-pharyngeal insufficiency corrected using a buccinator myomucosal flap.
Dias DK, Fernando PD, Dissanayake RD
Ceylon Med J 2016 Sept;61(3):130-134. doi: 10.4038/cmj.v61i3.8349. PMID: 27727413
A novel heterozygous mutation (F252Y) in exon 7 of the IRF6 gene is associated with oral squamous cell carcinomas.
Melath A, Santhakumar GK, Madhavannair SS, Nedumgottil BM, Ramanathan A
Asian Pac J Cancer Prev 2013;14(11):6803-6. doi: 10.7314/apjcp.2013.14.11.6803. PMID: 24377609
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.
Veenstra-Knol HE, Kleibeuker A, Timmer A, ten Kate LP, van Essen AJ
Am J Med Genet A 2003 Dec 15;123A(3):243-8. doi: 10.1002/ajmg.a.20308. PMID: 14608644

Clinical prediction guides

Low-Dose Cone-Beam Computed Tomography in Swedish Pediatric Patients With Alveolar Clefts Following Alveolar Bone Grafting-A Clinical Study.
Vicente A, Cederhag J, Rashidi N, Wiedel AP, Becker M, Brogårdh-Roth S, Shi XQ, Hellén-Halme K
Clin Exp Dent Res 2024 Dec;10(6):e70021. doi: 10.1002/cre2.70021. PMID: 39497332Free PMC Article
Epidemiologic Characteristics, Time Trend, and Seasonality of Orofacial Clefts in São Paulo State, Brazil. 2008-2019.
Calderon MG, Simoni VCO, Ferreira BGS, de Moraes AF, Gomes MA, Hatakeyama VS, Santos EFS
Cleft Palate Craniofac J 2024 Nov;61(11):1773-1783. Epub 2023 Jun 8 doi: 10.1177/10556656231181007. PMID: 37291957
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Oladayo A, Gowans LJJ, Awotoye W, Alade A, Busch T, Naicker T, Eshete MA, Adeyemo WL, Hetmanski JB, Zeng E, Adamson O, Adeleke C, Li M, Sule V, Kayali S, Olotu J, Mossey PA, Obiri-Yeboah S, Buxo CJ, Beaty T, Taub M, Donkor P, Marazita ML, Odukoya O, Adeyemo AA, Murray JC, Prince A, Butali A
Mol Genet Genomic Med 2023 Oct;11(10):e2237. Epub 2023 Jul 26 doi: 10.1002/mgg3.2237. PMID: 37496383Free PMC Article
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU
J Dent Res 2017 Oct;96(11):1314-1321. Epub 2017 Aug 2 doi: 10.1177/0022034517722761. PMID: 28767323
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.
Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky MS, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR
Hum Mutat 2015 Nov;36(11):1029-33. Epub 2015 Aug 3 doi: 10.1002/humu.22827. PMID: 26123647

Recent systematic reviews

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.
Bromley R, Adab N, Bluett-Duncan M, Clayton-Smith J, Christensen J, Edwards K, Greenhalgh J, Hill RA, Jackson CF, Khanom S, McGinty RN, Tudur Smith C, Pulman J, Marson AG
Cochrane Database Syst Rev 2023 Aug 29;8(8):CD010224. doi: 10.1002/14651858.CD010224.pub3. PMID: 37647086Free PMC Article
Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.
Fell M, Dack K, Chummun S, Sandy J, Wren Y, Lewis S
Cleft Palate Craniofac J 2022 Sep;59(9):1185-1200. Epub 2021 Sep 27 doi: 10.1177/10556656211040015. PMID: 34569861Free PMC Article
Prevalence of Congenital Heart Diseases in Patients with Orofacial Clefts: A Systematic Review.
Panamonta V, Pradubwong S, Panamonta M, Chowchuen B
J Med Assoc Thai 2015 Aug;98 Suppl 7:S22-7. PMID: 26742365
Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.
Allagh KP, Shamanna BR, Murthy GV, Ness AR, Doyle P, Neogi SB, Pant HB; Wellcome Trust- PHFI Folic Acid project team
PLoS One 2015;10(3):e0118961. Epub 2015 Mar 13 doi: 10.1371/journal.pone.0118961. PMID: 25768737Free PMC Article
Passive smoking in the etiology of non-syndromic orofacial clefts: a systematic review and meta-analysis.
Sabbagh HJ, Hassan MH, Innes NP, Elkodary HM, Little J, Mossey PA
PLoS One 2015;10(3):e0116963. Epub 2015 Mar 11 doi: 10.1371/journal.pone.0116963. PMID: 25760440Free PMC Article

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