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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

Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.
Sabbagh HJ, Innes NPT, Edris Ahmed S, Butali A, Alnamnakani EA, Rabah SM, Hamdan MA, Alhamlan NH, Abdulhameed FD, Hassan MHA, Al Mahdi HB, Alamoudi NM, Al-Aama JY, Alaki SM, Mossey PA
Genet Test Mol Biomarkers 2019 Jan;23(1):45-50. doi: 10.1089/gtmb.2018.0207. PMID: 30633559
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

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
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
Maxillary distraction osteogenesis versus orthognathic surgery for cleft lip and palate patients.
Kloukos D, Fudalej P, Sequeira-Byron P, Katsaros C
Cochrane Database Syst Rev 2018 Aug 10;8(8):CD010403. doi: 10.1002/14651858.CD010403.pub3. PMID: 30095853Free PMC Article
Validity and reliability of the COHIP-SF in Australian children with orofacial cleft.
Agnew CM, Foster Page L, Hibbert S
Int J Paediatr Dent 2017 Nov;27(6):574-582. Epub 2017 Aug 21 doi: 10.1111/ipd.12329. PMID: 28833655

Diagnosis

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
Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification.
McBride WA, McIntyre GT, Carroll K, Mossey PA
Cleft Palate Craniofac J 2016 Sep;53(5):539-49. Epub 2015 Jul 14 doi: 10.1597/15-029. PMID: 26171570
First-trimester diagnosis of cleft lip and palate using three-dimensional ultrasound.
Martinez-Ten P, Adiego B, Illescas T, Bermejo C, Wong AE, Sepulveda W
Ultrasound Obstet Gynecol 2012 Jul;40(1):40-6. doi: 10.1002/uog.10139. PMID: 22081485

Therapy

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
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
Maxillary distraction osteogenesis versus orthognathic surgery for cleft lip and palate patients.
Kloukos D, Fudalej P, Sequeira-Byron P, Katsaros C
Cochrane Database Syst Rev 2018 Aug 10;8(8):CD010403. doi: 10.1002/14651858.CD010403.pub3. PMID: 30095853Free PMC Article
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
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
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

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
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
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

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
Maxillary distraction osteogenesis versus orthognathic surgery for cleft lip and palate patients.
Kloukos D, Fudalej P, Sequeira-Byron P, Katsaros C
Cochrane Database Syst Rev 2018 Aug 10;8(8):CD010403. doi: 10.1002/14651858.CD010403.pub3. PMID: 30095853Free 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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