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Van der Woude syndrome(PIT; LPS)

MedGen UID:
61233
Concept ID:
C0175697
Disease or Syndrome
Synonyms: Cleft lip and/or palate with mucous cysts of lower lip; Lip pit syndrome
SNOMED CT: Van der Woude syndrome (79261008); Lip-pit-cleft lip syndrome (79261008)
 
Related genes: GRHL3, IRF6
 
Monarch Initiative: MONDO:0019508
OMIM®: 119300
Orphanet: ORPHA888

Definition

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. [from ORDO]

Term Hierarchy

Recent clinical studies

Etiology

Awadh W, Pegelow M, Heliövaara A, Rice DP
Eur J Orthod 2021 Aug 3;43(4):387-393. doi: 10.1093/ejo/cjaa082. PMID: 34079993
Allam KA, Haredy MM
Ann Plast Surg 2021 Aug 1;87(2):165-168. doi: 10.1097/SAP.0000000000002605. PMID: 33346530
Awadh W, Pegelow M, Heliövaara A, Rice DP
Eur J Orthod 2021 Jan 29;43(1):29-35. doi: 10.1093/ejo/cjaa014. PMID: 32558917
Yang K, Dong XY, Wu J, Zhu JJ, Tan Y, Yan YS, Lin L, Zhang DL
Mol Med Rep 2020 Oct;22(4):2925-2931. Epub 2020 Jul 28 doi: 10.3892/mmr.2020.11365. PMID: 32945398Free PMC Article
Tan EC, Lim HW, Lim ECP, Lee ST
Cleft Palate Craniofac J 2017 Jul;54(4):442-445. Epub 2016 May 31 doi: 10.1597/15-327. PMID: 27243668

Diagnosis

Allam KA, Haredy MM
Ann Plast Surg 2021 Aug 1;87(2):165-168. doi: 10.1097/SAP.0000000000002605. PMID: 33346530
Scheiba N, Hartschuh W
Dtsch Arztebl Int 2020 Oct 30;117(44):751. doi: 10.3238/arztebl.2020.0751. PMID: 33439825Free PMC Article
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
Mol Genet Genomic Med 2020 Aug;8(8):e1355. Epub 2020 Jun 17 doi: 10.1002/mgg3.1355. PMID: 32558391Free PMC Article
Yu Y, Wan Y, Qin C, Yue H, Bian Z, He M
Mol Genet Genomic Med 2020 May;8(5):e1196. Epub 2020 Feb 28 doi: 10.1002/mgg3.1196. PMID: 32108996Free PMC Article
Robbins A, Zarate YA, Hartzell LD
Cleft Palate Craniofac J 2019 Jan;56(1):123-126. Epub 2018 Apr 30 doi: 10.1177/1055665618773192. PMID: 29708799

Therapy

Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
Mol Genet Genomic Med 2020 Aug;8(8):e1355. Epub 2020 Jun 17 doi: 10.1002/mgg3.1355. PMID: 32558391Free PMC Article
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Castro CH, De Carvalho MF, Veloso DC, De Moraes M
Stomatologija 2012;14(2):60-4. PMID: 23037784
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article
Brookes JT, Canady JW
Cleft Palate Craniofac J 2007 Sep;44(5):555-7. doi: 10.1597/06-161.1. PMID: 17760491

Prognosis

Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
James O, Adeyemo WL, Emeka CI, Ogunlewe MO, Ladeinde AL, Butali A
Afr J Paediatr Surg 2014 Jan-Mar;11(1):52-5. doi: 10.4103/0189-6725.129235. PMID: 24647295Free PMC Article
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085
Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. PMID: 23154523Free PMC Article
Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC
Am J Med Genet A 2011 Jun;155A(6):1314-21. Epub 2011 May 13 doi: 10.1002/ajmg.a.33980. PMID: 21574244Free PMC Article

Clinical prediction guides

Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A
Mol Genet Genomic Med 2020 Aug;8(8):e1355. Epub 2020 Jun 17 doi: 10.1002/mgg3.1355. PMID: 32558391Free PMC Article
Richardson S, Khandeparker RV
J Oral Maxillofac Surg 2016 Sep;74(9):1849.e1-1849.e10. Epub 2016 May 26 doi: 10.1016/j.joms.2016.05.023. PMID: 27321409
Chen CH, Liao HT, Shyu VB, Chen PK
Int J Oral Maxillofac Surg 2013 Feb;42(2):198-203. Epub 2013 Jan 3 doi: 10.1016/j.ijom.2012.11.018. PMID: 23290085
Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. PMID: 23154523Free PMC Article
Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B
Genet Med 2007 Apr;9(4):213-8. doi: 10.1097/gim.0b013e3180335abd. PMID: 17438385

Recent systematic reviews

Peralta-Mamani M, Terrero-Pérez Á, Dalben G, Rubira CMF, Honório HM, Rubira-Bullen IF
Int J Oral Maxillofac Surg 2018 Apr;47(4):421-427. Epub 2017 Oct 28 doi: 10.1016/j.ijom.2017.10.002. PMID: 29089202

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