U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Dental age, agenesis, and morphological anomalies in individuals with Van der Woude syndrome and isolated cleft palate.
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
Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome.
Allam KA, Haredy MM
Ann Plast Surg 2021 Aug 1;87(2):165-168. doi: 10.1097/SAP.0000000000002605. PMID: 33346530
Taurodontism in the first permanent molars in Van der Woude syndrome compared to isolated cleft palate.
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
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
Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.
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

Diagnosis

Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome.
Allam KA, Haredy MM
Ann Plast Surg 2021 Aug 1;87(2):165-168. doi: 10.1097/SAP.0000000000002605. PMID: 33346530
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
Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.
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
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
Kabuki make-up syndrome: a review.
Matsumoto N, Niikawa N
Am J Med Genet C Semin Med Genet 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020. PMID: 12561059

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
Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways.
Mathiyalagan N, Miles LB, Anderson PJ, Wilanowski T, Grills BL, McDonald SJ, Keightley MC, Charzynska A, Dabrowski M, Dworkin S
Genes (Basel) 2019 Oct 31;10(11) doi: 10.3390/genes10110876. PMID: 31683705Free 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
Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.
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
A familial case of popliteal pterygium syndrome.
Bertelè G, Mercanti M, Gangini GN, Carletti V
Minerva Stomatol 2008 Jun;57(6):309-22. PMID: 18617879

Clinical prediction guides

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.
Junaid M, Slack-Smith L, Wong K, Hewitt T, Glasson E, Bourke J, Baynam G, Calache H, Leonard H
J Pediatr 2023 Aug;259:113418. Epub 2023 Apr 6 doi: 10.1016/j.jpeds.2023.113418. PMID: 37030611
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
Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways.
Mathiyalagan N, Miles LB, Anderson PJ, Wilanowski T, Grills BL, McDonald SJ, Keightley MC, Charzynska A, Dabrowski M, Dworkin S
Genes (Basel) 2019 Oct 31;10(11) doi: 10.3390/genes10110876. PMID: 31683705Free PMC Article
IRF6 expression in basal epithelium partially rescues Irf6 knockout mice.
Kousa YA, Moussa D, Schutte BC
Dev Dyn 2017 Sep;246(9):670-681. Epub 2017 Jul 19 doi: 10.1002/dvdy.24537. PMID: 28643456Free PMC Article
A review of tooth formation in children with cleft lip/palate.
Ranta R
Am J Orthod Dentofacial Orthop 1986 Jul;90(1):11-8. doi: 10.1016/0889-5406(86)90022-3. PMID: 3524249

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

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...