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Van der Woude syndrome(PIT; LPS)

MedGen UID:
61233
•Concept ID:
C0175697
•
Disease or Syndrome
Synonym: Lip pit syndrome
SNOMED CT: Van der Woude syndrome (79261008); Lip-pit-cleft lip syndrome (79261008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: 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:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
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

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

Professional guidelines

PubMed

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families.
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
Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index.
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
Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
Rizos M, Spyropoulos MN
Eur J Orthod 2004 Feb;26(1):17-24. doi: 10.1093/ejo/26.1.17. PMID: 14994878

Recent clinical studies

Etiology

Craniofacial characteristics in Van der Woude syndrome.
Estévez-Arroyo B, Gómez-Mendo I, Romero-Maroto M, Solano-Reina E, Iglesias-Linares A
Oral Dis 2023 May;29(4):1680-1691. Epub 2022 Mar 22 doi: 10.1111/odi.14187. PMID: 35286743
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.
van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ
Retina 2018 Sep;38(9):1713-1724. doi: 10.1097/IAE.0000000000001844. PMID: 28937528
A peripherally inserted central line in a preterm infant.
Narasimhan M, Spotswood N, Ziesing P, Marshall PB, Brecht M
J Paediatr Child Health 2016 Mar;52(3):351. doi: 10.1111/jpc.12777. PMID: 27124849
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Diagnosis

Van der Woude Syndrome.
Scheiba N, Hartschuh W
Dtsch Arztebl Int 2020 Oct 30;117(44):751. doi: 10.3238/arztebl.2020.0751. PMID: 33439825Free PMC Article
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.
van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ
Retina 2018 Sep;38(9):1713-1724. doi: 10.1097/IAE.0000000000001844. PMID: 28937528
A peripherally inserted central line in a preterm infant.
Narasimhan M, Spotswood N, Ziesing P, Marshall PB, Brecht M
J Paediatr Child Health 2016 Mar;52(3):351. doi: 10.1111/jpc.12777. PMID: 27124849
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Therapy

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
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
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.
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
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
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
Surgical correction of congenital lower lip sinuses in Van der Woude syndrome.
Brookes JT, Canady JW
Cleft Palate Craniofac J 2007 Sep;44(5):555-7. doi: 10.1597/06-161.1. PMID: 17760491

Prognosis

Mutations in Van Der Woude Families From Ethiopia.
Eshete M, Alade A, Abate F, Mossey PA, Awotoye WA, Busch T, Hailu A, Demissie Y, Butali A
J Craniofac Surg 2022 Mar-Apr 01;33(2):e138-e140. doi: 10.1097/SCS.0000000000008142. PMID: 34643600Free PMC Article
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.
van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ
Retina 2018 Sep;38(9):1713-1724. doi: 10.1097/IAE.0000000000001844. PMID: 28937528
A peripherally inserted central line in a preterm infant.
Narasimhan M, Spotswood N, Ziesing P, Marshall PB, Brecht M
J Paediatr Child Health 2016 Mar;52(3):351. doi: 10.1111/jpc.12777. PMID: 27124849
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Clinical prediction guides

Craniofacial characteristics in Van der Woude syndrome.
Estévez-Arroyo B, Gómez-Mendo I, Romero-Maroto M, Solano-Reina E, Iglesias-Linares A
Oral Dis 2023 May;29(4):1680-1691. Epub 2022 Mar 22 doi: 10.1111/odi.14187. PMID: 35286743
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.
Al-Qahtani AA, Ba-Ali S, Alabduljalil T, Coyner AS, Patel RC, Weleber RG, Girach A, Christensen SK, Larsen M, Pennesi ME, Yang P
Retina 2018 Sep;38(9):1725-1730. doi: 10.1097/IAE.0000000000001957. PMID: 29160785Free PMC Article
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.
van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, van Schooneveld MJ
Retina 2018 Sep;38(9):1713-1724. doi: 10.1097/IAE.0000000000001844. PMID: 28937528
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
Am J Med Genet A 2010 Sep;152A(9):2262-7. doi: 10.1002/ajmg.a.33338. PMID: 20803643
Protein sequences encode safeguards against aggregation.
Reumers J, Maurer-Stroh S, Schymkowitz J, Rousseau F
Hum Mutat 2009 Mar;30(3):431-7. doi: 10.1002/humu.20905. PMID: 19156839

Recent systematic reviews

Treatment of lower lip pits in Van der Woude syndrome: a systematic review.
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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