Same Name Campaign
Same disease—different names
From the middle of the 1960s, a few doctors and researchers in different specialties and from different parts of the world reported about people with particular groups of symptoms. Each gave a different name to the group of symptoms, known as syndromes.
- Dr. Angelo DiGeorge, a pediatric endocrinologist (a specialist in hormone problems in children), described individuals who had had heart defects, problems with low calcium, multiple infections, and abnormalities of the palate. The condition was named after him: “DiGeorge Syndrome”.
- Robert Shprintzen, a speech pathologist, described individuals who had palate problems (“velo”), heart defects (“cardio”), a characteristic facial appearance (“facial”) as well as learning difficulties. He named the disease “velocardiofacial syndrome” (VCFS for short).
- Each specialist was accurate in describing the individuals' symptoms in his or her own area of interest, but no one was able to give a unifying explanation for the cause of all these features.
- Some of the names used in the past hve tended to cause confusion. These include (source: 22q11.2 Deletion Syndrome - Genetics Home Reference):
- Autosomal dominant Opitz G/BBB syndrome
- Cayler cardiofacial syndrome
- Conotruncal anomaly face syndrome (CTAF)
- Deletion 22q11.2 syndrome
- DiGeorge Syndrome
- Sedlackova syndrome
- Shprintzen syndrome
- Velocardiofacial syndrome
- Velo-cardio-facial syndrome
- In the early 1990s, Dr. Deborah Driscoll and her team found that the people with syndromes had the same deletions in the q11.2 region of their chromosome 22.
- For more information on the history on the study of this syndrome, please visit The History of the 22q11.2 Deletion.
- Researchers have gathered enough evidence to confirm that the deletions in 22q11.2 are the cause of this collection of syndromes.
- Now that they have found the unifying cause, researchers are encouraging everyone (individuals with the syndrome, their family members, medical professionals) to use the name
22q11.2 Deletion Syndrome
instead of the multiple descriptive but outdated names. This is the basis for the “Same Name Campaign.”
Pass on the information
Here are some ways to tell others about the official name: 22q11.2DS.