Velocardiofacial syndrome (VCF) is a genetic condition involving palate abnormalities, cardiac anomalies, characteristic facies, and learning disabilities. This autosomal dominant malformation pattern is one of the most common syndromes associated with clefting (Shprintzen, Goldberg, Young, & Wolford, 1981), yet it can easily go undiagnosed. Velopharyngeal inadequacy is one of the key features. Because of the high incidence of speech, voice, and language disorders found in this population, the speech-language pathologist plays an integral role in the diagnosis of the syndrome and assists in management decisions related to medical and/or educational issues.

The purposes of this paper are to: (a) inform the reader of the expanding phenotype of velocardiofacial syndrome, (b) inform the reader of the ramifications of an accurate and early diagnosis, and (c) highlight the role the speech-language pathologist plays in the diagnosis of this genetic syndrome. This will be accomplished with a review of current literature and a case study presentation of a family with VCF who was evaluated at the Masters Family Speech and Hearing Center and Cleft Palate Center at Children’s Hospital of Wisconsin.