VATER Syndrome or VACTERL Association
VATER syndrome, presently known as VACTERL association, refers to a pattern of interrelated birth defects in an infant. The acronym is used to describe the types of disorders or problems a child may be suffering physically. Some resources prefer to use the VATER association than VATER syndrome. The main reason of calling it an association is the fact the birth defects present are connected or linked with each other. Abnormalities in children with this condition may not follow the same pattern or exact level of severity.
Certain genes or sets of genes that bring about this birth defect are still unknown.
Abnormalities in VATER Syndrome
Every letter in the acronym VATER represent a certain body part where a birth defect might be present. A short synopsis of what the letters represent is listed below:
V – Vertebral anomalies. Examples of problems in the vertebrae are an abnormally formed vertebra also termed as hemivertebrae, extra ribs and a bifid vertebra.
A – Anal anomalies such as imperforate anus, absence of opening in the anal area. Urinogenitary anomalies are also classified under this representation.
C – Cardiac Anomalies or abnormalities in the heart. Examples of birth defects under this type are missing arterial parts such as the pulmonary artery, or presence of holes in the heart such as in atrial septal defect and ventricular septal defect.
T – Tracheal anomalies such as the presence of connection between the trachea and esophagus, a condition called tracheoesophageal fistula.
E – Esophageal anomalies such as the absence of esophageal part or opening called, esophageal atresia or a birth defect where the esophagus connects to the trachea, tracheoesophageal fistula.
R – Renal or kidney anomalies. Examples of this birth defect are a missing kidney, presence of more than two kidneys or a horse-shoe kidney.
L – Limb Abnormalities. Missing bone/s in the arm/s, absence of a digit, missing bones in the leg and/or toes or an abnormally formed thumb is an example of birth defects under this category.
VATER is presently termed as VACTERL association by some practitioners and researchers in response to the added defects in the heart or cardiac system and limb deformities.
SURGICAL REPAIR of the Defects
If anatomical defects are present, surgical repair would improve the abnormality. The type and timing of surgery performed depends largely on the nature or the extent of birth defects and overall condition of the child.