title: Velo-cardio-facial syndrome.
abstract: OBJECTIVE
  Velo-cardio-facial syndrome has emerged from obscurity to become one of the most researched disorders this past decade. It is one of the most common genetic syndromes in humans, the most common contiguous gene syndrome in humans, the most common syndrome of cleft palate, and the most common syndrome of conotruncal heart malformations. Velo-cardio-facial syndrome has an expansive phenotype, a factor reflected in the wide range of studies that cover both clinical features and molecular genetics. In this review, we cover multiple areas of research during the past year, including psychiatric disorders, neuroimaging, and the delineation of clinical features.
  
  
  RESULTS
  The identification of candidate genes for heart anomalies, mental illness, and other clinical phenotypes has been reported in the past year with a focus on TBX1 for cardiac and craniofacial phenotypes and COMT and PRODH for psychiatric disorders. The expansive phenotype of velo-cardio-facial syndrome continues to grow with new behavioral and structural anomalies reported. Treatment issues are beginning to draw attention, although most authors continue to focus on diagnostic issues.
  
  
  CONCLUSIONS
  Its high population prevalence, estimated to be as common as 1:2000 has sparked a large amount of research, as has the model the syndrome serves for identifying the causes of mental illness and learning disabilities, but it is obvious that more information is needed. Intensive scrutiny of velo-cardio-facial syndrome will undoubtedly continue for many years to come with the hope that researchers will turn more of their attention to treatment and treatment outcomes.
authors.affiliation: Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Sciences, State University of New York Upstate Medical University, Syracuse, New York 13210, USA. shprintr@upstate.edu
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Shprintzen
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Higgins
authors.forename: Kevin
authors.initials: K
authors.lastname: Antshel
authors.forename: Wanda
authors.initials: W
authors.lastname: Fremont
authors.forename: Nancy
authors.initials: N
authors.lastname: Roizen
authors.forename: Wendy
authors.initials: W
authors.lastname: Kates
mesh_terms: D002394:Catechol O-Methyltransferase / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D011394:Proline Oxidase / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics
chemical_list: D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; D011394:Proline Oxidase; D002394:Catechol O-Methyltransferase