van der Woude Syndrome Follow-up

  • Author: Gregory P Conners, MD, MPH; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 13, 2011
 

Deterrence/Prevention

  • Although van der Woude syndrome is transmitted by an autosomal dominant inheritance pattern, the degree of expression in affected families widely varies.
  • Because the expressivity of the phenotype varies, the potential effects on unborn children are difficult to predict and may be of particular concern to parents. High-resolution ultrasonography and fetal echocardiography may be of some use in prenatally characterizing the severity of the phenotype.
  • Genetic counseling is recommended.
  • As genetic diagnostic and therapeutic methods advance, the principal syndromic form involving cleft lip and cleft palate may prove amenable to early detection and even preventive therapy.
Next

Complications

  • Cleft palate may be associated with feeding difficulties, voice disorders, frequent otitis media, and hearing loss.
  • Lip pits may be associated with other disorders, including popliteal pterygium syndrome and orodigitofacial dysostosis.
Previous
 
Contributor Information and Disclosures
Author

Gregory P Conners, MD, MPH  Chief, Division of Emergency Medical Services, Children's Mercy Hospital; Vice Chair of Pediatrics for Emergency and Urgent Care; Professor of Pediatrics and Emergency Medicine, University of Missouri-Kansas City School of Medicine

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Ian Krantz, MD  Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia

Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics

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.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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

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

  3. 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. Nov 2009;149A(11):2489-92. [Medline].

  4. 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. Oct 2009;18(4):225-7. [Medline].

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

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

  7. 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. Mar 2008;66(3):589-92. [Medline].

  8. 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. Sep 2010;21(5):1350-3. [Medline]. [Full Text].

  9. Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod. Feb 2004;26(1):7-16. [Medline].

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

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

  12. 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. [Medline].

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

  14. 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. Dec 2006;85(12):1143-6. [Medline].

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

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

  17. 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. May 1997;34(3):261-5. [Medline].

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

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

  20. 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. Feb 2004;26(1):17-24. [Medline].

  21. 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. Aug 1999;65(2):433-40. [Medline].

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

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

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

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

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

 
Previous
Next
 
Cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)
Closer view of cleft lip and cleft palate in an infant with van der Woude syndrome, showing raised pits of lower lip. (Photo courtesy of Mary J. Hauk, DDS.)
Intraoral view of cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.