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Orofacial cleft 10(OFC10)

MedGen UID:
355621
•Concept ID:
C1866070
•
Congenital Abnormality
Synonyms: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 10; OFC10
 
Gene (location): SUMO1 (2q33.1)
 
Monarch Initiative: MONDO:0013378
OMIM®: 613705

Definition

Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene. [from MONDO]

Clinical features

From HPO
Unilateral cleft lip
MedGen UID:
451047
•Concept ID:
C0392006
•
Congenital Abnormality
A non-midline cleft of the upper lip on one side only.
See: Feature record | Search on this feature
Unilateral cleft palate
MedGen UID:
867754
•Concept ID:
C4022143
•
Congenital Abnormality
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
Multidisciplinary team approach to the prenatal management of orofacial clefts: a single center cohort study in Taiwan.
Ko H, Chang TY, Lussier EC, Olisova K, Sung CY, Chen PK, Li WC, Yang TY, Wang RX
Sci Rep 2020 Aug 18;10(1):13916. doi: 10.1038/s41598-020-70906-1. PMID: 32811868Free PMC Article
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

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
Caries in children with and without orofacial clefting: A systematic review and meta-analysis.
Grewcock RE, Innes NPT, Mossey PA, Robertson MD
Oral Dis 2022 Jul;28(5):1400-1411. Epub 2022 Mar 22 doi: 10.1111/odi.14183. PMID: 35263806Free PMC Article
Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Malthus Mysterious Orofacial Cleft Correction.
Diaz M, Llorente M, Asensi V
Cleft Palate Craniofac J 2018 Nov;55(10):1456-1457. Epub 2018 Mar 14 doi: 10.1177/1055665618760411. PMID: 29537879

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
Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Invasive cervical resorption and the oro-facial cleft patient: a review and case series.
O'Mahony A, McNamara C, Ireland A, Sandy J, Puryer J
Br Dent J 2017 May 12;222(9):677-681. doi: 10.1038/sj.bdj.2017.405. PMID: 28496230
ICD-10-based expanded code set for use in cleft lip/palate research and surveillance.
Allori AC, Cragan JD, Cassell CH, Marcus JR
Birth Defects Res A Clin Mol Teratol 2016 Nov;106(11):905-914. doi: 10.1002/bdra.23544. PMID: 27891780
Orodental manifestations in ectodermal dysplasia-a review.
Bergendal B
Am J Med Genet A 2014 Oct;164A(10):2465-71. Epub 2014 Apr 9 doi: 10.1002/ajmg.a.36571. PMID: 24719393

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
Caries in children with and without orofacial clefting: A systematic review and meta-analysis.
Grewcock RE, Innes NPT, Mossey PA, Robertson MD
Oral Dis 2022 Jul;28(5):1400-1411. Epub 2022 Mar 22 doi: 10.1111/odi.14183. PMID: 35263806Free PMC Article
Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Invasive cervical resorption and the oro-facial cleft patient: a review and case series.
O'Mahony A, McNamara C, Ireland A, Sandy J, Puryer J
Br Dent J 2017 May 12;222(9):677-681. doi: 10.1038/sj.bdj.2017.405. PMID: 28496230
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

The impact of family history of non-syndromic oral clefts on their incidence in pregnancy.
Badr DA, Sanchez TC, Kang X, Olivier C, Jani JC
J Matern Fetal Neonatal Med 2022 Apr;35(8):1523-1526. Epub 2020 May 5 doi: 10.1080/14767058.2020.1759539. PMID: 32367753
The Likelihood of Orthognathic Surgery After Orofacial Cleft Repair.
Choi KJ, Wlodarczyk JR, Nagengast ES, Wolfswinkel E, Munabi NCO, Yao C, Magee WP 3rd
J Craniofac Surg 2021 May 1;32(3):902-906. doi: 10.1097/SCS.0000000000007262. PMID: 33235169
Sagittal split ramus osteotomy-related biomechanical properties.
Rougier G, Boisson J, Thurieau N, Kogane N, Mangione F, Picard A, Dallard J, Cherfa L, Szmytka F, Kadlub N
Br J Oral Maxillofac Surg 2020 Oct;58(8):975-980. Epub 2020 Jul 2 doi: 10.1016/j.bjoms.2020.05.002. PMID: 32624266
Incidence, Risk Factors, and Mortality Associated With Orofacial Cleft Among Children in Ontario, Canada.
Malic CC, Lam M, Donelle J, Richard L, Vigod SN, Benchimol EI
JAMA Netw Open 2020 Feb 5;3(2):e1921036. doi: 10.1001/jamanetworkopen.2019.21036. PMID: 32049294
Socioeconomic influence on orofacial cleft patient care.
Smillie I, Yong K, Harris K, Wynne DM, Russell CJ
Scott Med J 2015 May;60(2):70-4. Epub 2014 Dec 12 doi: 10.1177/0036933014564133. PMID: 25504476

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
Orofacial functions and quality of life in children with unilateral cleft lip and palate.
Montes ABM, Oliveira TM, Gavião MBD, Barbosa TS
Braz Oral Res 2019 Sep 9;33:e0061. doi: 10.1590/1807-3107bor-2019.vol33.0061. PMID: 31531563
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
Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.
Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915
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

Association between gestational exposure and risk of orofacial clefts: a systematic review and meta-analysis.
Huang Z, Wu J, Qiu Y, Lin J, Huang W, Ma X, Zhang H, Yang X
BMC Pregnancy Childbirth 2023 Dec 1;23(1):829. doi: 10.1186/s12884-023-06104-4. PMID: 38041018Free PMC Article
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
Caries in children with and without orofacial clefting: A systematic review and meta-analysis.
Grewcock RE, Innes NPT, Mossey PA, Robertson MD
Oral Dis 2022 Jul;28(5):1400-1411. Epub 2022 Mar 22 doi: 10.1111/odi.14183. PMID: 35263806Free PMC Article
Maternal Stressful Life Events During the Periconceptional Period and Orofacial Clefts: A Systematic Review and Meta-Analysis.
Tran C, Crawford AA, Hamilton A, French CE, Wren Y, Sandy J, Sharp G
Cleft Palate Craniofac J 2022 Oct;59(10):1253-1263. Epub 2022 Jan 11 doi: 10.1177/10556656211045553. PMID: 35014881
Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.
Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915

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