Heart or blood pump. butt hole Bone of the Arm, Hand and  fingers. Kidneys  Ureters  Bladder  Genitals Food pipe, Swallow,  Gullet and Esophagus. Wind pipe, Breathing tube. Bones of the Neck, Back, Spinal cord.








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

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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, M.D.

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 of fetuses.

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 esophageal atresia.

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.

 

Related Disorders

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.

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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..

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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.



TEF/Vater® International
is a nonprofit organization founded by Greg and Terri Burke after their daughter, Jaclyn, was born with esophageal atresia in 1990.  To those children, born and unborn, with esophageal atresia, tracheo-esophageal fistula, and/or the VATER/VACTERL Association, and to the very special parents and medical staff who love and care for them, this organization is dedicated

 



phone 301-952-6837 | fax 301-952-9152 | email info@tefvater.org