U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

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
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
Screening for syphilis infection in pregnant women: evidence for the U.S. Preventive Services Task Force reaffirmation recommendation statement.
Wolff T, Shelton E, Sessions C, Miller T
Ann Intern Med 2009 May 19;150(10):710-6. doi: 10.7326/0003-4819-150-10-200905190-00009. PMID: 19451578

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
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
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
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

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
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
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

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

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
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

Clinical prediction guides

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study.
Silva AMD, Calumby RT, Freitas VS
Rev Paul Pediatr 2023;42:e2022234. Epub 2023 Sep 15 doi: 10.1590/1984-0462/2024/42/2022234. PMID: 37729242Free 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
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
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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...