van der Woude Syndrome Differential Diagnoses

1. Bozkurt M, Kulahci Y, Zor F, Kapi E, Yucetas A. Reconstruction of the lower lip in Van der Woude syndrome. Ann Plast Surg. 2009 Apr. 62(4):451-5. [QxMD MEDLINE Link].

2. Peralta-Mamani M, Terrero-Perez A, Dalben G, Rubira CMF, Honorio HM, Rubira-Bullen IF. Treatment of lower lip pits in Van der Woude syndrome: a systematic review. Int J Oral Maxillofac Surg. 2018 Apr. 47 (4):421-7. [QxMD MEDLINE Link].

3. Hixon K, Rhea L, Standley J, Canady FJ, Canady JW, Dunnwald M. Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. Cleft Palate Craniofac J. 2017 May. 54 (3):281-6. [QxMD MEDLINE Link].

4. Leslie EJ, Koboldt DC, Kang CJ, et al. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families. Clin Genet. 2016 Jul. 90 (1):28-34. [QxMD MEDLINE Link].

5. Manjegowda DS, Prasad M, Veerappa AM, et al. Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. Genet Res (Camb). 2014 Oct 10. 96:e12. [QxMD MEDLINE Link].

6. Petrin AL, Zeng E, Thomas MA, et al. DNA methylation differences in monozygotic twins with Van der Woude syndrome. Front Dent Med. 2023. 4:[QxMD MEDLINE Link].

7. Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B. Cognitive dysfunction in adults with Van der Woude syndrome. Genet Med. 2007 Apr. 9(4):213-8. [QxMD MEDLINE Link].

8. Nawa H, Oberoi S, Vargervik K. Taurodontism and Van der Woude syndrome. Is there an association?. Angle Orthod. 2008 Sep. 78(5):832-7. [QxMD MEDLINE Link].

9. Sarode GS, Desai RS, Sarode SC, Kulkarni MA. Van der Woude syndrome with an unusual intraoral finding. Indian J Dent Res. 2011 Jan-Feb. 22(1):164-5. [QxMD MEDLINE Link].

10. Yeetong P, Mahatumarat C, Siriwan P, Rojvachiranonda N, Suphapeetiporn K, Shotelersuk V. Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. Am J Med Genet A. 2009 Nov. 149A(11):2489-92. [QxMD MEDLINE Link].

11. Houweling AC, Gille JJ, Baart JA, van Hagen JM, Lachmeijer AM. Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. Clin Dysmorphol. 2009 Oct. 18(4):225-7. [QxMD MEDLINE Link].

12. Stuppia L, Capogreco M, Marzo G, La Rovere D, Antonucci I, Gatta V, et al. Genetics of syndromic and nonsyndromic cleft lip and palate. J Craniofac Surg. 2011 Sep. 22(5):1722-6. [QxMD MEDLINE Link].

13. American Academy of Pediatric Dentistry. Clinical guideline on management of persons with special health care needs. Chicago, IL: American Academy of Pediatric Dentistry; 2004.

14. Krauel L, Parri FJ, Munoz E, Sancho AM, Gean E, Morales L. Van der Woude Syndrome and lower lip pits treatment. J Oral Maxillofac Surg. 2008 Mar. 66(3):589-92. [QxMD MEDLINE Link].

15. Jones JL, Canady JW, Brookes JT, Wehby GL, L'Heureux J, Schutte BC, et al. Wound complications after cleft repair in children with Van der Woude syndrome. J Craniofac Surg. 2010 Sep. 21(5):1350-3. [QxMD MEDLINE Link]. [Full Text].

16. Jobling R, Ferrier RA, McLeod R, Petrin AL, Murray JC, Thomas MA. Monozygotic twins with variable expression of Van der Woude syndrome. Am J Med Genet A. 2011 Aug. 155A(8):2008-10. [QxMD MEDLINE Link].

17. Silvestre J, Tahiri Y, Paliga JT, et al. Screening for obstructive sleep apnea in children with syndromic cleft lip and/or palate. J Plast Reconstr Aesthet Surg. 2014 Nov. 67(11):1475-80. [QxMD MEDLINE Link].

18. Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod. 2004 Feb. 26(1):7-16. [QxMD MEDLINE Link].

19. Du X, Tang W, Tian W, et al. Novel IRF6 mutations in Chinese patients with Van der Woude syndrome. J Dent Res. 2006 Oct. 85(10):937-40. [QxMD MEDLINE Link].

20. Ghassibe M, Bayet B, Revencu N, et al. Orofacial clefting: update on the role of genetics. B-ENT. 2006. 2 Suppl 4:20-4. [QxMD MEDLINE Link].

21. Janku P, Robinow M, Kelly T, et al. The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. Am J Med Genet. 1980. 5(2):117-23. [QxMD MEDLINE Link].

22. Lacombe D, Pedespan JM, Fontan D, Chateil JF, Verloes A. Phenotypic variability in van der Woude syndrome. Genet Couns. 1995. 6(3):221-6. [QxMD MEDLINE Link].

23. Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K. A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. J Dent Res. 2006 Dec. 85(12):1143-6. [QxMD MEDLINE Link].

24. Menko FH, Koedijk PH, Baart JA, Kwee ML. Van der Woude syndrome--recognition of lesser expressions: case report. Cleft Palate J. 1988 Jul. 25(3):318-21. [QxMD MEDLINE Link].

25. Oberoi S, Vargervik K. Hypoplasia and hypodontia in Van der Woude syndrome. Cleft Palate Craniofac J. 2005 Sep. 42(5):459-66. [QxMD MEDLINE Link].

26. Onofre MA, Brosco HB, Taga R. Relationship between lower-lip fistulae and cleft lip and/or palate in Von der Woude syndrome. Cleft Palate Craniofac J. 1997 May. 34(3):261-5. [QxMD MEDLINE Link].

27. Pauli RM, Hall JG. Lip pits, cleft lip and/or palate, and congenital heart disease. Am J Dis Child. 1980 Mar. 134(3):293-5. [QxMD MEDLINE Link].

28. Puvabanditsin S, Garrow E, Sitburana O, et al. Syngnathia and Van der Woude syndrome: a case report and literature review. Cleft Palate Craniofac J. 2003 Jan. 40(1):104-6. [QxMD MEDLINE Link].

29. Rizos M, Spyropoulos MN. Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod. 2004 Feb. 26(1):17-24. [QxMD MEDLINE Link].

30. Sertie AL, Sousa AV, Steman S, et al. Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. Am J Hum Genet. 1999 Aug. 65(2):433-40. [QxMD MEDLINE Link].

31. Shprintzen RJ, Goldberg RB, Sidoti EJ. The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. Cleft Palate J. 1980 Jan. 17(1):52-7. [QxMD MEDLINE Link].

32. Tomlinson JK, Liem NT, Savarirayan R, Meara JG. Isolated and syndromic syngnathism: management, implications, and genetics. Ann Plast Surg. 2006 Aug. 57(2):231-5. [QxMD MEDLINE Link].

33. Van der Woude A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet. 1954 Jun. 6(2):244-56. [QxMD MEDLINE Link].

34. Velez A, Alamillos FJ, Dean A, Ruiz-Masera JJ. Congenital lower lip pits (Van der Woude syndrome). J Am Acad Dermatol. 1995 Mar. 32(3):520-1. [QxMD MEDLINE Link].

35. Vignale R, Araujo J, Pascal G, et al. Van der Woude syndrome. A case report. Pediatr Dermatol. 1998 Nov-Dec. 15(6):459-63. [QxMD MEDLINE Link].

Gregory P Conners, MD, MPH, MBA, FAAP, FACEP Director, Division of Emergency Medicine, Children's Mercy Hospital; Associate Chair of Pediatrics, Professor of Pediatrics and Emergency Medicine, University of Missouri-Kansas City School of Medicine

Gregory P Conners, MD, MPH, MBA, FAAP, FACEP is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, American Pediatric Society, Society for Academic Emergency Medicine

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

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