Now Playing: What causes vater syndrome?
What causes this association is still somewhat unclear, but they have found some connection to a genetic abnormality caused by a mutated gene. The prognosis is very dependent on the severity of the defects and to what extent. Most of the abnormalities are surgically corrected. Majority of the children born with this association will be hospitalized for the first few years of life until they are stable enough to go home.

Now Playing: Links for More Information!

Here are a few different support groups for people with V.A.T.E.R. syndrome:

http://www.communities.ninemsn.com.au/VaterSyndromefamilysupportgroup
         

This group was created for families of children With Vater Syndrome so they can talk and share stories. The creater of this sight has a 2 yr old son born with Vaters.

 

http://www.tefvater.org/index2.html

This is the national V.A.T.E.R. support group. This sight has alot of great information!

 

 http://www.kumc.edu/gec/support/vater.html

This websites has links to many other related websites about V.A.T.E.R. sydrom and ways for parents of children with this syndrom to cope.

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Click here to see pictures of and read the story about a young boy who lived for mearly 12hrs with V.A.T.E.R. syndrom before dying a noble death.

https://tahirabs.angelfire.com/williammom/

V.A.T.E.R. Syndrom
Now Playing: What is V.A.T.E.R. syndrom?

V.A.T.E.R./ V.A.C.T.E.R.L. are the acronyms used to describe the types of physical problem(s) a child may have. It's an association characterized by the sporadic association of specific birth defects or abnormalities. Not all children born with this association have the exact same level of abnormality. Some may be mild, while others will be severe. The survival rate is very much dependent on how severe the defects are. Only a doctor can give that information.
V - Vertebrae problems, For example, abnormally formed vertebrae, and extra ribs.

A - Anal Anomalies and sometimes rectum problems. For example, there is no opening where the anus should be

C - Cardiac problems. For example, there may be a hole in the heart or a defective valve

T - Trachea problems. For example, there is a connection between the trachea and esophagus.

E - Esophagus problems. For example, part of the esophagus is missing.

R - Radius (lower arm bone) and/or Renal (kidney) problems for example, the larger lower arm bone is abnormally formed, or a thumb is missing or abnormally formed kidney.

L - Limb (arms, hands, legs or feet) problem(s). For example, some are born with extra fingers or shortened limbs

Now Playing: How to diagnos V.A.T.E.R. syndrom?

Some features of VATER can be seen on prenatal ultrasound so that the diagnosis may be suspected at birth. Ultrasound can see differences of the vertebrae, heart, limbs, limb positions, kidneys, and some reproductive parts. Other problems that are associated with VATER on ultrasound are poor fetal growth, excessive fluid in the womb, absent or collapsed stomach, and one artery in the umbilical cord instead of the usual two. VATER features that cannot be seen on ultrasound are differences of the anus, esophagus, and trachea.

Even if VATER is suspected before birth, an infant must be examined after birth to determine the extent of features. The entire pattern of internal and external differences will determine if the infant has VATER association, another multiple birth defect syndrome, or a genetic syndrome (such as Holt-Oram syndrome, TAR syndrome, or Fanconi anemia). Since VATER overlaps with some genetic syndromes, some infants may fit the VATER pattern and still have another diagnosis. VATER only describes the pattern of related birth defects. Since the genetic causes of VATER are unknown, genetic testing is not available. A family history focusing on VATER features can help to determine if an infant has a sporadic case or a rare inherited case.

Now Playing: How to treat and manage V.A.T.E.R. Syndrom?

Treatment for VATER involves surgery for each separate feature. Holes in the heart can be closed by surgery. Structural problems of the heart can also often be repaired. Prognosis is best for infants with small or simple heart problems. Some vertebral problems may also need surgery. If the vertebral differences cause a problem for the individual's posture, braces or other support devices may be needed.

Problems with the trachea and esophagus can also be repaired with surgery. Before surgery the infant usually needs a feeding tube for eating. This will stop the choking and spitting up. The infant may also need oxygen to help with breathing. If the trachea and esophagus are connected, the connection is separated first. Once separated, the two trachea ends and esophagus ends can be sealed together. When part of the esophagus is missing, the two loose ends are connected. If the gap between the loose ends is too big, surgery may be delayed until the esophagus grows. Some infants still have problems after surgery. They may have a difficult time swallowing or food may get stuck in their throat. They may also have asthma and frequent respiratory infections.

 

Surgery can also repair problems of the anus and rectum. Before surgery, a temporary opening is made from the small intestine to the abdomen. This allows the infant to have bowel movements and pass stool material. An anal opening is created with surgery. The intestines and rectum are adjusted to fit with the new anal opening. The temporary opening on the abdomen may be closed immediately after surgery or it may be closed weeks or months later. Surgeons must be very careful not to damage the nerves and muscles around the anus. If they are damaged, the individual may lose control of their bowel movements.

Differences of the hands and arms can also be improved with surgery. Infants with underdeveloped or absent radius may have a stiff elbow, stiff wrist, or twisted arm. Surgery can loosen the elbow and wrist to allow for movement. The arm can also be straightened. If needed, muscles from other parts of the body can be put into the arm. This may also improve movement. Even after surgery, individuals may not have completely normal function of the muscles and tendons of the arms and hands.

Now Playing: What causes V.A.T.E.R. Syndrom?

The exact genetic cause of VATER association is unknown. Most cases are sporadic and do not occur more than once in the same family. This was determined by studies of families with an affected individual. Since cases are rare and most are isolated in a family, studies to find a genetic cause have been unsuccessful. Parents of a child with VATER association have a 1% or less chance of having another baby with the same condition. There have been a few reports of affected individuals with a parent or sibling showing a single feature of the VATER spectrum. There has only been one reported case of a parent and child both affected with multiple VATER features.

Most individuals with VATER association have a normal chromosome pattern. However, a few cases of chromosome differences have been reported in individuals with VATER. One child with VATER had a deletion (missing piece) on the long arm of chromosome 6. Another male infant had a deletion on the long arm of chromosome 13. There have been other children reported with a chromosome 13 deletion and VATER-like features. This infant was the first reported with the deletion to have all of the VACTERL main features. He was also the first with this chromosome deletion to have a connection between his trachea and esophagus. Another child with VATER association had an extra marker chromosome. This is a fragment of chromosomal material present in the cell in addition to the usual 46 chromosomes. This child's marker was found to contain material from chromosome 12. These cases have not led to the discovery of a gene involved in VATER.