22q11.2 vs Velocaridofacial syndrome?
22q11.2 deletion syndrome is also commonly referred to as Velocardiofacial syndrome (though there are other historical names for the chromosomal deletion – like DiGeorge syndrome – depending upon the varying symptoms). According to our genetic specialist, genetics typically classifies everyone with a 22q11 deletion as having ’22q11 deletion syndrome’. The name ‘Velocardiofacial syndrome’ (VCFS) is more historical and more narrowly defined than 22q11 deletion syndrome. Some with 22q11 deletion syndrome have no cleft, speech, and/or feeding problems and therefore wouldn’t have VCFS per the historical definition. Due to Izzy’s palate dysfunction, she does fall into the Velocardiofacial category, and some of the time, others are more familiar with this term (like her speech therapist and plastics team).
We actually didn’t know that Izzy fell into this category until she began intensive speech therapy in 2023.