Velocardiofacial Syndrome (VCFS)

Velocardiofacial Syndrome, also known as shprintzen syndrome, is related to chromosome 22q11.2 deletion syndrome, distal and digeorge syndrome/velocardiofacial syndrome complex 2. An important gene associated with Velocardiofacial Syndrome is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include thymus and heart, and related phenotypes are velopharyngeal insufficiency and intellectual disability