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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.
Unilateral cleft palate
MedGen UID:
867754
Concept ID:
C4022143
Congenital Abnormality

Professional guidelines

PubMed

Silva IMW, Tacla MA, Ribeiro EM, Lustosa-Mendes E, Fett-Conte AC, Félix TM, Xavier AC, Monlleó IL, Gil-da-Silva-Lopes VL
J Pediatr (Rio J) 2024 Nov-Dec;100(6):604-608. Epub 2024 Jul 22 doi: 10.1016/j.jped.2024.07.002. PMID: 39053888Free PMC Article
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
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

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
Van Swol J, Wolf BJ, Toumey J, Pecha P, Patel KG
Cleft Palate Craniofac J 2022 Oct;59(10):1213-1221. Epub 2021 Oct 22 doi: 10.1177/10556656211042162. PMID: 34678105Free PMC Article
Hoi KK, Curtis SH, Driver L, Wisnosky E, Zopf DA, Bohm LA
Ann Otol Rhinol Laryngol 2021 Oct;130(10):1105-1111. Epub 2021 Feb 25 doi: 10.1177/0003489421997651. PMID: 33629600
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
Verrotti A, Mencaroni E, Castagnino M, Zaccara G
Expert Opin Drug Saf 2015 Oct;14(10):1563-71. Epub 2015 Sep 2 doi: 10.1517/14740338.2015.1084288. PMID: 26329145

Diagnosis

Strausz T, Strausz S, Jones SE, Palotie T, Lobbezoo F, Ahlberg J, Ollila HM
J Dent Res 2024 Sep;103(10):980-987. Epub 2024 Aug 26 doi: 10.1177/00220345241264749. PMID: 39185608Free PMC Article
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
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
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
Dave KV, Patel SC, Dudhia BB, Panja P
Indian J Dent Res 2013 Jan-Feb;24(1):132-5. doi: 10.4103/0970-9290.114920. PMID: 23852247

Therapy

Ornoy A, Echefu B, Becker M
Int J Mol Sci 2023 Dec 27;25(1) doi: 10.3390/ijms25010390. PMID: 38203562Free PMC Article
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
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
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
Verrotti A, Mencaroni E, Castagnino M, Zaccara G
Expert Opin Drug Saf 2015 Oct;14(10):1563-71. Epub 2015 Sep 2 doi: 10.1517/14740338.2015.1084288. PMID: 26329145

Prognosis

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
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
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
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU
J Dent Res 2017 Oct;96(11):1314-1321. Epub 2017 Aug 2 doi: 10.1177/0022034517722761. PMID: 28767323
Abid A, Maatouk F, Berrezouga L, Azodo C, Uti O, El-Shamy H, Oginni A
Adv Dent Res 2015 Jul;27(1):10-7. doi: 10.1177/0022034515582062. PMID: 26101335

Clinical prediction guides

Strausz T, Strausz S, Jones SE, Palotie T, Lobbezoo F, Ahlberg J, Ollila HM
J Dent Res 2024 Sep;103(10):980-987. Epub 2024 Aug 26 doi: 10.1177/00220345241264749. PMID: 39185608Free PMC Article
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
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
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
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU
J Dent Res 2017 Oct;96(11):1314-1321. Epub 2017 Aug 2 doi: 10.1177/0022034517722761. PMID: 28767323

Recent systematic reviews

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
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
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
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
Gallagher ER, Collett BR
Pediatrics 2019 Jul;144(1) Epub 2019 Jun 12 doi: 10.1542/peds.2018-4027. PMID: 31189616

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