I have been told that my child has DiGeorge syndrome. Is that the same as VCFS? What about partial DiGeorge? Is that the same as a less severe case of VCFS?
A well-known clinical geneticist, Dr. M. Michael Cohen, Jr., has often said that geneticists are more likely to share their toothbrushes than their terminology. For a variety of reasons, VCFS is also known by a number of other labels, including DiGeorge sequence, Shprintzen syndrome, Cayler cardiofacial syndrome, 22q deletion syndrome, conotruncal anomalies face syndrome (in Japan), and, unfortunately, CATCH 22. CATCH 22 should certainly be dropped from the list of acceptable labels because it is an attempt at humor (based on the late Joseph Heller’s novel and black comedy, CATCH22). In the case of “DiGeorge,” the name was applied after Dr. Angelo DiGeorge, an endocrinologist at St. Christopher’s Hospital in Philadelphia at the time, described athymia (absence of the thymus gland) and hypoparathyroidism in several newborns. It has since been learned that many of these early cases had VCFS.
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