The name VATER Association was first used
by Dr. David W. Smith and Dr. Linda Quan in 1972 to describe
babies born with a series of multiple birth defects. The
word "VATER" itself is not the name of a disease,
a diagnosis, or a condition. It is an acronym. An acronym
is a word that is made from the first letters of a group
of words, such as UPS, the delivery company. The three letters
"U-P-S" are the first letters of the three words
"United Parcel Service." Likewise, "VATER"
is an acronym made up of the five letters "V-A-T-E-R."
Each letter in the acronym VATER
is used to describe specific or multiple parts of the body
that may have been affected or interrupted during embryonic
development either by developing abnormally or not at all.
As mentioned above, this interruption
of normal embryonic development occurs after the two cells
from the parents join together, somewhere within the first
23 to 28 days of conception. This is also the time period
when the sperm has penetrated the egg, and the parents'
genetic makeup is being passed on to the new cell, or blastocyte.
This new cell, or blastocyte, divides many times, becoming
an embryo and later a fetus.
V- Vertebral or
vertebrae: this is the bones of the spine of your neck and
back. A person has 7 cervical vertebrae or bones in the
neck and below that is 12 thoracic vertebra from where you
can bend your neck backward to your mid back, and below
that is the 5 lumbar vertebrae and below that is the sacral
vertebrae that are fused or joined together and coccyx vertebrae
which is your tail bone. Any of these bones or vertebrae
can develop problems such as hemi-vertebra where only half
of a bone grows, or bones grow with a curve or having extra
bones and or missing bones. Ribs are attached to the vertabrae
and a baby can be born with missing ribs or extra ribs along
with Spina bifida and a tethered spinal chord.
One of the more severe types of spina bifida.
A- Anus or anal
: this is the opening between the cheeks of your buttocks
and where you pass gas and pass out waste material ("poop")
that your body doesn't use. What birth defect that happens
here is that there is no opening call imperforate anus and
or anal atresia . With Anal atresia the word atresia is
greek which means no way out so you can't fart or poop and
there may be no connection between the anus and the rectum
which is a hollow tube at the very end of your intestines
and just before the anal opening.
T- Trachea: this
is your breathing tube, or wind pipe, made of cartilage,
that is located in the middle of your neck and is the tube
that carries oxygen or the air you breath to your lungs.
A baby can be born with a fistula which is tissue that grows
and connects the esophagus (the tube you swallow food with)
to the trachea. The trachea lies in front of the esophagus
and is separated by a very thin membrane and the esophagus
and trachea follow a path between the heart vessel the aorta
and can be compressed by the aorta as it beats.
E- Esophagus: (Oesophagus:
this is the British spelling) this is the hollow musclar
tube that connects the mouth to the stomach. It lies behind
the trachea and follows the same path as the trachea but
where the trachea branches into two parts of the lung the
esophagus continues down through a hole in the diaphragm
and joins or connects with the stomach where food is digested
and then passed in to the intestines. The esophagus is about
6 inches long in a baby and the esophagus may not completely
grow and attach to the stomach or a part is missing called
esophageal atresia. The esophagus may attach to the trachea
called a tracheo-esophageal fistula. This can happen in
many different ways. The esophagus is part of the alimentary
canal which starts in the mouth down the esophagus into
the stomach into the small intestine then into the large
intestine and into the last part of the intestine the rectum
just before the anal opening.
R-Radial and Renal,
(one letter used to describe two different parts of the
body) the radius (radial bone) is one of two bones in the
lower arm and lies behind the thumb and at the break in
the wrist when you move your hand and wrist up and down.
This bone may not grow called radial aplasia. Aplasia means
the failure of an organ or tissue to develop normally. If
this bone doesn't grow the finger called the thumb usually
doesn't grow either.
The word "Renal" means kidneys,
two bean-shaped organs, one on the right side of the body
and one on the left side, used to filter liquids and waste
material and pass them to the bladder. The Renal System
includes not only the kidneys but also the ureters, bladder,
urethra, genitalia, and reproductive organs. Renal problems
can include cysts on the kidneys, or missing kidney(s) as
well as many other problems
In the VATER association it is common for
different organs of the body to be connected to other organs
of the body. For example the esophagus may attach to the
trachea, called a tracheoesophageal fistula.
David W. Smith, M.D. and Linda Quan,
Dr. David W. Smith is considered the father
of dysmorphology which is the study of abnormal development
or malformations of the fetus or baby. In 1972 Dr. Smith
coined the acronym VATER with his student Dr. Linda Quan
who is an Emergency room physician today. Dr. Smith was
a dysmorphologist. A dysmorphologist is a doctor who specializes
in the study of the abnormal malformations or development
Dr. Smith was born in1926 and died from
complication from cancer in 1981. Dr. Smith wrote about
the types of problems in morphogenisis which is a Greek
word: morph ,meaning (form) plus genesis, meaning production.
In short it is the different processes that happen during
the development of a fetus and by which the form of the
body and its organs is established. Dr. Smith wrote about
the four types of problems in MORPHOGENESIS or of structural
defects that can result in a chain of defects or a sequence
of defects by the time of birth. Dr. Smith used 4 sequences
that include malformation, deformation, disruption and dysplasia.
The First Medical Article using the acronym
VATER is written in a Medical Journal: Birth Defects in
1972 Titled: The VATER association: Vertebral defects, anal
atresia, tracheoesophageal fistula with esophageal atresia,
radial dysplasia; Quan,L, Smith D.W.
A second medical article called The VATER
ASSOCIATION was written up in The Journal of Pediatrics
in 1973 and the authors were Quan, L., and Smith, D. W.:
Vertebral defects, Anal atresia, T-E fistula with esophageal
atresia, Radial and Renal dysplasia: A spectrum of associated
defects. This was the first time the acronym VATER was extended
and the letter R to describe both the Radial bone in the
arm and the letter R for renal to describe the kidney. Today
the VATER association is also called the VATER complex,
VATER syndrome of multiple congenital anomalies. . The following
names and acronyms have been used in the past and to this
day to describe what Dr. Smith called The VATER ASSOCIATION.
Before Dr. Smith and Quan wrote their paper
and used the name VATER birth defects were usually followed
by the word anomalies or syndromes.
In 1965 in the American Journal of Radiology
Dr. J.A. Kirkpatrick and associates wrote an article entitled
A Complex of anomalies with tracheoesophageal fistula and
In 1968 Dr. B. Say and Dr. P.S. Gerald
wrote in a medical magazine called the Lancet a paper called:
A new polydactyly, imperforate anus, vertebral anomalies
syndrome: to describe a group of multiple congenital anomalies
that occur together or birth defects.
In another paper written in 1971 for the
Scandinavian Journal Acta Paediatra Dr. G Say and associates
wrote A new syndrome of dysmorphogenesis-imperforate anus
associated with poly-oligodactyly more than 5 fingers, and
skeletal (mainly vertebral) spinal anomalies.
Smith and Quan write their paper in 1972
and We have the beginning of the acronym VATER association.
Later in 1972 Dr. R. L. Kaufman and his
associates wrote a paper in The Medical Journal Birth Defects
which desctribe multiple birth defects: Family studies in
congenital heart disease. II. A Syndrome of hydronephrocolpos,
postaxial polydactyly and congenital heart disease.
In 1973 Nora and Nora used the acronymVACTEL.
With the addition of the letter C for cardiac (heart) and
the letter L for limb anomalies that include the hand,fingers
arms and legs the acrinyn continued to grow.
In 1974 Dr. S. A. Temtamy and Dr. J. D.
Miller wrote in the Journal of pediatrics a paper : Extending
the scope of the vater association: Definition of a VATER
syndrome. Temtamy and Miller added the letter S to stand
for the (single) umbilical artery. The umbilical chord usually
has 3 blood vessels, 2 arteries and one vein that connect
a baby to the mother. By checking the umbilical chord at
delivery to see if there are only 2 vessels on occasion
has been a sign of multiple birth defects. Temtamy and Miller
also described cardiac defects and prenatal growth deficiency
as nonrandom features of this pattern of birth defects.
They added to the acronym VATER the letter S to extend the
acronym to 6 letters VATERS with the V standing for both
vertebral defects and Ventricle of the heart that has a
defect (a hole) called a Ventricular septal defect.
There are many others names that have become
synonymous with VATER and to list a few others such as:
vactel, vactels, vaceryl, vacteryl, vacerl and vacters,
vaters, vacterls, article, ( HPPC) which the acronym is
for hydronephrocolpos-postaxial-polydactyly -congenital
heart disease syndrome, Kaufman syndrome, Say-Gerald syndrome,
Vacterl, (IAPS) this acronym is Imperforate anus-polydactyly-syndrome,
(PIAS) this acronym is polydactyly-imperforate anus syndrome,
(PIAVA) this acronym is Polydactyl imperforate anus vertebral
anomalies syndrome, as well as the acronym CRAVAT from Australia.
And one can have both VATER and CHARGE Association, complex
or syndrome because the anomalies are so closely related.
The words syndrome, complex or association means that more
than one birth defect or multiple congenital anomaly (MCA)
is discovered after birth and on occasion has been picked
up before birth.
To be identified or classified as any of
the above acronyms the original concept was a baby had to
be born with 3 birth defects that go along with the acronym.
The wide spectrum of birth defects of the original acronym
by Dr. Smith The VATER association continues to grow and
to include many more birth defects and chromosonal defects
such as Downs Syndrome, vacterl with hydrocephally.
The following are some of the other birth
defects and multiple congenital anomalies that have been
seen in the VATER association: cleft lip, cleft palate,
cleft lip and cleft palate, spina-bifida, hypospadia, epispadia,
hydrocephally, cancer, eye and ear anomalies, teeth anomalies,
missing kidneys called Potters syndrome, missing brain,
bladder exstrophy, cloacal exstrophy, omphalocele, missing
testicle or missing testicles, missing genitals, missing
lung or lungs, intestinal anomalies such as duodenal atresia,
numerous heart defects that include transposition of the
arteries , dextrocardia, hypo-plastic left heart, ( tetrology
of fallot (TOF) tracheal agenesis which means the trachea
never grew, tracheal stenosis a narrowing of the trachea,
missing arms, legs, fingers, club hand, club feet and corneal
problems to name a few of the anomalies what we have read
about in our research and have had different members let
us know about. We have found over a 100 birth defects associated
with the esophagus. Can you imagine the length of the acronym
or name. We could use every letter of the alphabet.
Why the Name "VATER"
Speaking with associates of Dr. Smith a
few years ago I asked why he used the name or acronyn VATER.
I was told it was because he was very fond of the country
Germany that he used to visit quite often when he was alive
and also that he was of German descent and the word for
father in German just happen to be VATER. I would like to
share a story that is related to the German name for father
and the use of the acronym VATER that we use in the name
of our support group.
The acronym VATER I was told in the last
year by a Pediatric surgeon that it was actually named after
a pathologist at Children's Hospital in Boston. When I called
the Pathology department I spoke to a retired pathologist
Dr. Van Prague who was so kind and humble and had such a
grandfatherly voice. I asked him if this pathologist whose
name was Dr. VAWTER who was deceased named this group of
birth defects after himselfhe went on to say Dr.VAWTER !
with a Santa Clause like laugh from his stomach and said,
Oh goodness no , Gordon was much to humble of a man to do
anything like that.
Then I was told that it was named after
a great German anatomist, botanist and Pathologist named
Abraham VATER born in 1684. This was not true either. What
was named after him was a part of the body called the ampulla
of vater which has to do with the duodenum, pancreas and
common bile duct also called the papilla of VATER.
The original name or acronymVATER continues
to grow with the addition of other letters when a doctor
seems to think it fits birth defects described along with
VATER.. Though many doctors don't like the use of a name
for multiple birth defects VATER is recognized by the insurance
companies in their book the International Classification
of Diseases which classifies syndromes and they have given
it a Clinical Modification number.
About 7 years ago our friend Enyd Michel
who is the founder of the German support group for families
born with oesophageal atresia (British spelling for esophagus)
tracheo-oesophageal fistula and Vater called KEKS in the
city of Stuggart.
Enyd is actually from England but married
a German. Enyd has a daughter born with TOF and a hand anomaly.
I had spoken with Enyd on many occasions and invited her
to the United States to our first support group meeting
, a meeting with Dr. Koop and President Clinton and his
wife on health care issues for families with children with
birth defects, and to meet with Dr. Les Biesecker a pediatrician
and geneticists from Michigan and who was now working at
the National Institute of Health in Bethesda Maryland doing
research on kids born with Vater and to possibly form an
International Support Group with the KEKS group and other
groups from around the world.
Dr. Biesecker is a pediatric physician
who was caring for one of our members daughter born with
VATER and it was her mother Mary Jane Kitchens a really
wonderful lady and a very special mom who had given Les
our phone number. Dr. Biesecker called and asked if it would
be possible to get all of our members names and phone numbers
because he wanted to start research on the VATER association
of birth defects to see if therre was a genetic link at
the National Institute of Health in Bethesda Maryland. We
couldn't give out the names and phone numbers because of
the right to privacy act so we gave him an open forum to
write in our newsletter and offer his research and that
way families could contact him.
We didn't know if we would have enough
members who had enough of the anomalies for VATER research
to start so this research was also offered to the KEKS group
to obtain the number of families needed for the research.
We met with Les at the National Institute of Health and
he presented a wonderful presentation.
We were also waiting for Dr. Koop who used
to be Surgeon General of the United States and was also
former chief of pediatric surgery at Children's Hospital
of Philadelphia (CHOP) to come back to Bethesda Maryland.
Dr. Koop had seen many babies with these birth defects of
the esophagus and trachea in his years at CHOP and wrote
extensively about it.
We were to meet on a Wednesday and share
with him our goals for an international group and ask if
he would be a board member. Dr. Koop had written for our
newsletter and given our newsletter to the President and
his wife to see how health care affects families with children
with multiple birth defects, and how to possibly improve
the family patient and doctor relationship and have the
family take an active roll in the care of their baby and
the cost of insurance and many other things.
We were scheduled to meet with the President
and his wife Friday of the same week we were to meet with
Dr. Koop. Dr. Koop was called out of town back to Dartmouth
to work on his web site KOOP and President Clintion ended
up in the hospital which was not reported to the public
till the following Monday.
Enyd, Dirk a journalist that covers many
of the KEKS group activities in Germany and Uli who was
treasurer of KEKS and a father of a TOF child and who is
now the Chairman of KEKS, we did get a tour of the White
House and met with the people who I have been in contact
with over the years at the White House and Executive Offices.
Dirk took tons of pictures of the white house and executive
offices and spiral stairways, and pictures of Enyd and Uli.
After a disappointing day we came back
home and sat around and talked about our plans as an International
team. Enyd had asked me if it would be possible to not use
the name VATER in our support group name. I thought this
was a little strange but as she went on to explain I soon
not only saw why but could feel the reason why. Enyd went
on to explain that the previous year a young husband and
wife had a baby with multiple birth defects. While in the
hospital this father (vater) overheard the nurses talking
about his baby and themany problems his baby had.
Enyd went on to explain that this father
thought the birth defects his baby had (VATER) were caused
by him. Because of his interpretaion of VATER being Father
in German and not understanding that the acronym vater was
a group of birth defects this young father went home and
took his life thinking he was the cause of his babies birth
defects. I went numb and couldn't move, talk or breath and
my eyes swelled with tears. As I write this now those same
feeling come back and I understood why Enyd asked us to
not use the name VATER. I asked Enyd if I could get back
to her after I was in a better frame of mind because of
what she had just told me and I was reminded of a phone
call we received 2 years earlier from a grandmother who
became a friend . This grandmother had wished that we had
been around as a support group in 1989 because her daughter-in
law and her son had a baby with esophageal atresia and tracheo-esophageal
fistula. This couple was heart broken and after a couple
of weeks this mom had also taken her life because she felt
she caused her babies birth defect. After many years of
research I have ironically found out that the VATER we think
of describing multiple birth defects was actually thought
up by a doctor of German origin and the name VATER meaning
father in the German language and also used to describe
this acronym of multiple congenital anomalies should come
back to be seen in a different light later on..
We have decided to to use the acronym CARROTS.
The acronym CARROTS describes each birth defect by its specific
letter and is one of the foods we try and get our babies
to eat. So it can have a double meaning.