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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
Epidemiology of Nonsyndromic, Orofacial Clefts in Texas: Differences by Cleft Type and Presence of Additional Defects.
Navarro Sanchez ML, Swartz MD, Langlois PH, Canfield MA, Agopian AJ
Cleft Palate Craniofac J 2023 Jul;60(7):789-803. Epub 2022 Feb 28 doi: 10.1177/10556656221080932. PMID: 35225696Free 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
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
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

Diagnosis

Epidemiology of Nonsyndromic, Orofacial Clefts in Texas: Differences by Cleft Type and Presence of Additional Defects.
Navarro Sanchez ML, Swartz MD, Langlois PH, Canfield MA, Agopian AJ
Cleft Palate Craniofac J 2023 Jul;60(7):789-803. Epub 2022 Feb 28 doi: 10.1177/10556656221080932. PMID: 35225696Free PMC Article
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
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
Maternal multivitamin intake and orofacial clefts in offspring: Japan Environment and Children's Study (JECS) cohort study.
Yoshida S, Takeuchi M, Kawakami C, Kawakami K, Ito S; Japan Environment and Children's Study Group
BMJ Open 2020 Mar 30;10(3):e035817. doi: 10.1136/bmjopen-2019-035817. PMID: 32234746Free 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

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
Association between Dental Anomalies and Orofacial Clefts: A Meta-analysis.
Marzouk T, Alves IL, Wong CL, DeLucia L, McKinney CM, Pendleton C, Howe BJ, Marazita ML, Peter TK, Kopycka-Kedzierawski DT, Morrison CS, Malmstrom H, Wang H, Shope ET
JDR Clin Trans Res 2021 Oct;6(4):368-381. Epub 2020 Oct 8 doi: 10.1177/2380084420964795. PMID: 33030085Free PMC Article
In utero exposure to valproate increases the risk of isolated cleft palate.
Jackson A, Bromley R, Morrow J, Irwin B, Clayton-Smith J
Arch Dis Child Fetal Neonatal Ed 2016 May;101(3):F207-11. Epub 2015 Sep 25 doi: 10.1136/archdischild-2015-308278. PMID: 26408639
Folic acid and orofacial clefts: a review of the evidence.
Wehby GL, Murray JC
Oral Dis 2010 Jan;16(1):11-9. doi: 10.1111/j.1601-0825.2009.01587.x. PMID: 20331806Free PMC Article

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
Child Protective Services Referral in a Cleft Lip and/or Palate Population: Assessment of Prevalence, Indications, and Outcomes.
Kaye A, Shah K, Lybrand S, Baysinger S, Tracy M
Cleft Palate Craniofac J 2022 Apr;59(4_suppl2):S28-S36. Epub 2021 May 7 doi: 10.1177/10556656211013259. PMID: 33960236
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
Cleft Palate with or without Cleft Lip: The Role of Retronasal Triangle View and Maxillary Gap at 11-14 Weeks.
De Robertis V, Rembouskos G, Fanelli T, Votino C, Volpe P
Fetal Diagn Ther 2019;46(6):353-359. Epub 2019 Mar 8 doi: 10.1159/000496842. PMID: 30852571
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
Family Impact of Child Oro-Facial Cleft.
Agnew CM, Foster Page LA, Hibbert S, Thomson WM
Cleft Palate Craniofac J 2020 Nov;57(11):1291-1297. Epub 2020 Jun 30 doi: 10.1177/1055665620936442. PMID: 32602353
Clinical and Epidemiologic Description of Orofacial Clefts in Bogota and Cali, Colombia, 2001-2015.
Sarmiento K, Valencia S, Gracia G, Hurtado-Villa P, Zarante I
Cleft Palate Craniofac J 2018 Apr;55(4):517-520. Epub 2017 Dec 20 doi: 10.1177/1055665617741062. PMID: 29554446
Folic acid and orofacial clefts: a review of the evidence.
Wehby GL, Murray JC
Oral Dis 2010 Jan;16(1):11-9. doi: 10.1111/j.1601-0825.2009.01587.x. PMID: 20331806Free PMC Article

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
Association between Dental Anomalies and Orofacial Clefts: A Meta-analysis.
Marzouk T, Alves IL, Wong CL, DeLucia L, McKinney CM, Pendleton C, Howe BJ, Marazita ML, Peter TK, Kopycka-Kedzierawski DT, Morrison CS, Malmstrom H, Wang H, Shope ET
JDR Clin Trans Res 2021 Oct;6(4):368-381. Epub 2020 Oct 8 doi: 10.1177/2380084420964795. PMID: 33030085Free 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
Neighborhood Deprivation and Risk of Congenital Heart Defects, Neural Tube Defects and Orofacial Clefts: A Systematic Review and Meta-Analysis.
Deguen S, Kihal W, Jeanjean M, Padilla C, Zmirou-Navier D
PLoS One 2016;11(10):e0159039. Epub 2016 Oct 26 doi: 10.1371/journal.pone.0159039. PMID: 27783616Free PMC Article

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