International 22q11 Syndrome Day: awareness about an underdiagnosed genetic condition

Every May 22nd, International 22q11 Syndrome Day is commemorated, a date dedicated to raising awareness about this rare genetic condition, considered one of the most common chromosomal alterations after Down syndrome. The 22q11 syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, occurs due to the absence of a small part of chromosome 22. This alteration can cause various health and developmental problems, including heart conditions, learning difficulties, speech disorders, immunological problems, and developmental delays.

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Specialists point out that many people can live for years without receiving a proper diagnosis, due to the wide variety of symptoms presented by the condition. Therefore, organizations and health professionals promote early detection and access to specialized therapies and treatments. The date also seeks to make visible the experiences of families and patients, promote inclusion, and strengthen medical research related to this genetic alteration.