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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; Lip-Pit Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
not genetically inherited
MedGen UID:
832438
Concept ID:
CN227390
Finding
Source: Orphanet
clinical entity without genetic inheritance.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Van der Woude syndrome (79261008); Lip-pit-cleft lip syndrome (79261008)
 
OMIM®: 119300
Orphanet: ORPHA888

Definition

A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVan der Woude syndrome
Follow this link to review classifications for Van der Woude syndrome in Orphanet.

Recent clinical studies

Etiology

Kitchin S, Grames L, Naidoo SD, Skolnick G, Schoenborn A, Snyder-Warwick A, Patel K
J Craniofac Surg 2019 Jul;30(5):1484-1487. doi: 10.1097/SCS.0000000000005590. PMID: 31299749Free 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
Hixon K, Rhea L, Standley J, Canady FJ, Canady JW, Dunnwald M
Cleft Palate Craniofac J 2017 May;54(3):281-286. Epub 2016 Apr 26 doi: 10.1597/15-275. PMID: 27115562Free PMC Article
Wang Y, Sun Y, Huang Y, Pan Y, Jia Z, Ma L, Ma L, Lan F, Zhou Y, Shi J, Yang X, Zhang L, Jiang H, Jiang M, Yin A, Cheng J, Wang L, Yang Y, Shi B
Gene 2016 Aug 15;588(1):69-73. Epub 2016 Apr 26 doi: 10.1016/j.gene.2016.04.045. PMID: 27129939
Heliövaara A, Karhulahti R, Rautio J
J Plast Surg Hand Surg 2015;49(4):209-13. Epub 2014 Dec 17 doi: 10.3109/2000656X.2014.992904. PMID: 25516228

Diagnosis

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
Angiero F, Farronato D, Ferrante F, Paglia M, Crippa R, Rufino L, Trevisiol A, Mazzola RF, Blasi S
Eur J Paediatr Dent 2018 Mar;19(1):70-73. doi: 10.23804/ejpd.2018.19.01.13. PMID: 29569458
Li S, Zhang X, Chen D, Zhao W, Zhang X, Jiao J, Guo L, Yin L, Song X, Liang C, Sun C
Mol Med Rep 2018 Jan;17(1):1241-1246. Epub 2017 Nov 6 doi: 10.3892/mmr.2017.7978. PMID: 29115498
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
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

Therapy

Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S
Gene 2013 Oct 15;529(1):186-9. Epub 2013 Aug 6 doi: 10.1016/j.gene.2013.07.031. PMID: 23928108
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

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
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
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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