What's in a name

There is a poem "The Blind Men and the Elephant' by John Godfrey Saxe (1816-1887) which is based on a parable which originated in the Indian sub-continent. The story is about six blind men who come across an elephant. In turn each man touches a part of the animal and describes what the animal is like. The first touches the side of the elephant and says it is like a wall, the second a tusk which is described as a spear, the third holds the trunk which he describes as a snake, the fourth grabs a knee which he says is like a tree, whilst the fifth grabs an ear which is says is like a fan. Finally the last man hold the elephant's tail which he explains is like a rope.  Each man is correct in his description but none of them is able to visualise the whole picture.

I first came across this story a few years ago when it was used at a conference I attended to describe how knowledge of the condition I am referring to as 22q 11.2 DS has developed over the years.

History of the condition

I suspect the condition has been around for centuries but as around 75% of cases have heart defects, before the advances in heart surgery over the past 30 years or so many people would not have survived beyond infancy.

The following information is taken from "Educating Children with Velo-Cardio-Facial Syndrome" by Donna Cutler-Landsman and more specifically from a chapter written by Robert J. Shprintzen PhD who first used the term Velo-Cardio-Facial Syndrome in 1978.  I hope this is an accurate summary and apologise to Dr. Shprintzen if I have got this wrong.

The first medical report which described a combination of some of the the anomalies associated with the condition appeared in a paper by Sedlaakova in 1955. The articles was in a medical journal published in the former Czechoslovakia and as these were the days of the Cold War the publication was not seen outside of Eastern Europe.

By 1968 an American doctor the late Italian-American doctor Angelo DiGeorge had identified a number of anomalies which occurred together including an under active parathyroid gland, resulting in low calcium levels, underdeveloped or absent thymus, resulting in problems with the immune system and heart defects (e.g. tetralogy of Fallot, interrupted aortic arch, ventricular septal defects). This combination came to be known as "Di George Syndrome".

Around 1976 papers started to be published in Japan describing a similar combination of anomalies under the name of Conotruncal Anomalies Face Syndrome.

While as mentioned above in 1978 Dr. Shprintzen and his team were coining the phrase Velo-Cardio-Facial Syndrome (VCFS) (sometimes referred to as Shprintzen syndrome) to described a group of patients with a similar combination of anomalies including cleft lip and/or palate, heart defects, absent or small thymus, and in some, but not all, cases low calcium levels.

In 1985 Dr. Shprintzen's group had determined that Di George was actually a sequence (a series of conditions that do not have a common cause) rather than a syndrome (a series of conditions with a common cause). This is because Di George Sequence can also be found in people with several other genetic conditions including Down's syndrome.

By1992 Dr. Peter Scambler was studying children with Di George Sequence and noticed that some but not all had a piece of DNA missing from Chromosome 22 and wondered whether the same was also true of patients with VCFS. A number of blood samples of people with VCFS but without the under active parathyroid gland associated with Di George Sequence were sent to Dr. Scambler.  When tested all of the samples showed the 22q 11.2 deletion.

So in summary.  

i) We have Di George Syndrome which is really Di George Sequence,
ii) Only some of the people with Di George Syndrome / Sequence have the 22q 11.2 deletion,
iii) VCFS is the same as 22q 11.2 DS, and
iv) the syndrome has at various times also been called Shprintzen syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome.

Confused ?? No wonder the condition remains relatively unknown.

However there now appears to be some momentum towards a common name and I would hope that social media campaigns like #22qAwarenessDays will bring knowledge of the condition to a wider audience.