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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

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
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
Maternal biomarkers of methylation status and non-syndromic orofacial cleft risk: a meta-analysis.
Blanco R, Colombo A, Pardo R, Suazo J
Int J Oral Maxillofac Surg 2016 Nov;45(11):1323-1332. Epub 2016 Jun 27 doi: 10.1016/j.ijom.2016.06.011. PMID: 27364370
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

Diagnosis

Orofacial dysfunction in cleft lip and palate patients using the nordic orofacial test-screening.
Eslami N, Bardideh E, Tatari P, Dehghani L
J World Fed Orthod 2024 Dec;13(6):288-292. Epub 2024 Jul 17 doi: 10.1016/j.ejwf.2024.05.002. PMID: 39025744
Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.
Jaruga A, Ksiazkiewicz J, Kuzniarz K, Tylzanowski P
Int J Mol Sci 2022 Jan 16;23(2) doi: 10.3390/ijms23020953. PMID: 35055138Free PMC Article
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

Therapy

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 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
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
Intra- and perioperative complications of the LeFort I osteotomy: a prospective evaluation of 1000 patients.
Kramer FJ, Baethge C, Swennen G, Teltzrow T, Schulze A, Berten J, Brachvogel P
J Craniofac Surg 2004 Nov;15(6):971-7; discussion 978-9. doi: 10.1097/00001665-200411000-00016. PMID: 15547385

Prognosis

Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts.
Hermann AL, Soupre V, Vande Perre S, Guilbaud L, Quenum-Miraillet G, Blondiaux E, Picard A, Jouannic JM, Dhombres F, Garel C
Fetal Diagn Ther 2023;50(2):70-83. Epub 2023 Feb 28 doi: 10.1159/000529821. PMID: 36854283
Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
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
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
Epidemiology of cleft lip and palate among Jews and Bedouins in the Negev.
Silberstein E, Silberstein T, Elhanan E, Bar-Droma E, Bogdanov-Berezovsky A, Rosenberg L
Isr Med Assoc J 2012 Jun;14(6):378-81. PMID: 22891400

Clinical prediction guides

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
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
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

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 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
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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