The Characteristics of VATER Syndrome

VATER Syndrome is characterized by sporadic and specific birth defects. Dr. David W. Smith and Dr. Linda Quan first coined the term VATER Syndrome in 1972. VATER is not the name of a disease or diagnosis, but it is an acronym that is used to describe the areas that are affected by the syndrome. VATER stands for vertebrae, anal, trachea, esophagus and radius (lower arm bone and renal or kidneys). Another acronym VACTERL was later introduced to describe two other areas that the syndrome affects. The C was added for cardiac and the L was added for limb (There is a possibility with the syndrome to have shortened limbs and extra fingers). VATER or VACTERL Syndrome was originally known as VATER Association.

VATER Syndrome is extremely rare. In fact the odds of having more than one child with the syndrome is less than one percent. There has only been one documented case of a mother and a child both having the syndrome.

Children who are diagnosed with the syndrome may not have defects in all the areas, but they will have defects in many of the areas. If a child has defects in at least three of the areas then a diagnosis of VATER Syndrome is usually made.

The cause of VATER Syndrome is not yet known, but researcher's believe that a gene defect may be involved. A mutation in the HOXD13 gene has been identified in one patient with the syndrome. They also believe that the defects begin early on in the embryo's development. So far research has indicated that the chromosome patterns are normal in those with the syndrome. Children of diabetic mother's seem to be at more risk of developing the syndrome, but multiple factors are still believed to contribute to the development of VATER syndrome.

The only treatment option for this syndrome is surgery. Different surgeries have to be performed on each of the individual birth defects based on the levels of severity. If the vertebrae, anus, trachea and heart are involved then the child will need four different operations. If all seven of the areas have serious defects then seven operations would be needed to complete the appropriate treatment.

VATER Syndrome was featured on an episode of Grey's Anatomy. A teenager, played by May Whitman, was unable to stand in an upright position because of the syndrome. She could barely walk and her spine looked as though it was twisted.

Approximately 30% of children with this syndrome will die during the newborn stage. Children with the syndrome can usually lead normal productive lives if the defects are not severe. Most of the cases have been so sporadic that the exact number of children with the syndrome is unknown.

Sources:

Amie Stanley, "VATER Association", Healthline
Johns Hopkins University, "VATER Association", OMIM
Terri Mauro, "VATER Syndrome", About.com