eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

van der Woude Syndrome: Multimedia

Author: Gregory P Conners, MD, MPH, MBA, Professor of Emergency Medicine and Pediatrics, Departments of Emergency Medicine and Pediatrics, University of Rochester School of Medicine and Dentistry
Contributor Information and Disclosures

Updated: Apr 16, 2009

Multimedia

Cleft lip and cleft palate in an infant with van ...Media file 1: Cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)
Cleft lip and cleft palate in an infant with van ...

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 i...Media file 2: 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.)
Closer view of cleft lip and cleft palate in an i...

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 a...Media file 3: Intraoral view of cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)
Intraoral view of cleft lip and cleft palate in a...

Intraoral view of cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)

More on van der Woude Syndrome

Overview: van der Woude Syndrome
Differential Diagnoses & Workup: van der Woude Syndrome
Treatment & Medication: van der Woude Syndrome
Follow-up: van der Woude Syndrome
Multimedia: van der Woude Syndrome
References

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

  4. 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].

  5. 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].

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

  7. 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].

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

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

  14. 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].

  15. 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].

  16. 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].

  17. 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].

  18. 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].

  19. 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].

  20. 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].

  21. 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].

  22. 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].

  23. 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].

Further Reading

Keywords

van der Woude syndrome, VWS, VDWS, cleft lip syndrome, lip pit syndrome, cleft palate, dimpled papillae of the lip, cleft lip, lip pits, hypodontia, hypernasal voice, cleft uvula, bifid uvula, syngnathia, ankyloglossia, congenital heart defect, Hirschsprung disease, popliteal pterygium syndrome, congenital heart defects

Contributor Information and Disclosures

Author

Gregory P Conners, MD, MPH, MBA, Professor of Emergency Medicine and Pediatrics, Departments of Emergency Medicine and Pediatrics, University of Rochester School of Medicine and Dentistry
Gregory P Conners, MD, MPH, MBA is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, and Society for Academic Emergency Medicine
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; 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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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.

 
 
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