VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. The cause of VCFS is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause VCFS have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22.
Chromosomes are threadlike structures found in every cell of the body.
Each chromosome contains hundreds of genes. The location or address of the missing segment in individuals with VCFS is 22q11. As a result of this deletion, some of the genes are absent from this chromosome. Scientists and physicians know that VCFS is an autosomal dominant disorder. This means that only one parent needs to have the gene for VCFS in order to pass it along to their children.