How Did One Syndrome Get So Many Names?
A syndrome is a unique pattern of characteristics or symptoms with a known or suspected cause. Before DNA testing was possible, genetic syndromes were named for the doctor who first described the condition, for the symptoms it includes, or both. It is more common now to name conditions for the underlying genetic cause. Because of the wide range of symptoms associated with 22q11.2 deletion syndrome, it was independently described as several different conditions and was given a variety of names including:
Year |
Syndrome Name |
Abbreviation |
Named for |
1968 |
DiGeorge syndrome |
DGS |
Dr. Angelo DiGeorge |
1969 |
Cayler cardiofacial syndrome |
CCS |
Dr. G.G. Cayler and signs & symptoms |
1976 |
Conotruncal anomaly face syndrome |
CTAF |
Signs & symptoms |
1978 |
Velocardiofacial syndrome |
VCFS |
Signs & symptoms |
1999 |
22q11.2 deletion syndrome |
22q11.2DS |
Underlying genetic cause |