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J Pediatr Genet 2015; 04(01): 009-016
DOI: 10.1055/s-0035-1554978
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Genetics of Cleft Palate and Velopharyngeal Insufficiency

Walter M. Sweeney
1   Division of Plastic Surgery, Ann and Robert H. Lurie Children's Hospital of Northwestern University, Chicago, Illinois, United States
,
Steve T. Lanier
1   Division of Plastic Surgery, Ann and Robert H. Lurie Children's Hospital of Northwestern University, Chicago, Illinois, United States
,
Chad A. Purnell
1   Division of Plastic Surgery, Ann and Robert H. Lurie Children's Hospital of Northwestern University, Chicago, Illinois, United States
,
Arun K. Gosain
1   Division of Plastic Surgery, Ann and Robert H. Lurie Children's Hospital of Northwestern University, Chicago, Illinois, United States
› Author Affiliations
Further Information

Publication History

12 October 2014

26 December 2014

Publication Date:
17 July 2015 (online)

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Abstract

Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI.

Keywords

cleft palate - velopharyngeal insufficiency - palate anatomy - palate physiology - velopharynx - genetics
 

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