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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
Changes in the birth prevalence of orofacial clefts in Japan: Has the birth prevalence of orofacial clefts been affected by improved accuracy of prenatal diagnosis?
Natsume N, Furukawa H, Niimi T, Takeuchi K, Yoshida W, Sakuma C, Imura H, Fujiwara K, Akashi J, Hayami K, Natsume N
Congenit Anom (Kyoto) 2022 Jan;62(1):11-17. Epub 2021 Sep 28 doi: 10.1111/cga.12444. PMID: 34505318
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

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
American Indian and Alaska Native Accessibility to Comprehensive Cleft Lip and Palate Treatment.
Wolfswinkel EM, Howell AC, MacDonald B, Wilson JP, Howell LK
Cleft Palate Craniofac J 2023 Nov;60(11):1376-1384. Epub 2022 May 31 doi: 10.1177/10556656221104942. PMID: 35642251
Speech Outcomes of a National Cohort of Children with Orofacial Cleft at 5 and 10 Years of age.
Morrison MM, Mason NT, Forde BL, Stone PR, Fowler PV, Thompson JMD
Cleft Palate Craniofac J 2022 Nov;59(11):1400-1412. Epub 2021 Oct 21 doi: 10.1177/10556656211044939. PMID: 34672811
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

Diagnosis

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
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: 35225696
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
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
Prevention of cleft lip and/or palate in A/J mice by licorice solution.
Chimedtseren I, Niimi T, Inoue M, Furukawa H, Imura H, Minami K, Garidkhuu A, Gantugs AE, Natsume N
Congenit Anom (Kyoto) 2023 Sep;63(5):141-146. Epub 2023 Jun 3 doi: 10.1111/cga.12527. PMID: 37269175
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
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
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
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T
Hum Mutat 2019 Oct;40(10):1813-1825. Epub 2019 Jun 18 doi: 10.1002/humu.23793. PMID: 31215115Free PMC Article
Cholesteatoma risk in 8,593 orofacial cleft cases and 6,989 siblings: A nationwide study.
Djurhuus BD, Skytthe A, Faber CE, Christensen K
Laryngoscope 2015 May;125(5):1225-9. Epub 2014 Nov 12 doi: 10.1002/lary.25022. PMID: 25388367
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
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
Clinical and epidemiological study of orofacial clefts.
Souza J, Raskin S
J Pediatr (Rio J) 2013 Mar-Apr;89(2):137-44. doi: 10.1016/j.jped.2013.03.010. PMID: 23642423
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
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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