Vater or Vacterl Is Referred

VATER or VACTERL is referred to as an association of birth defects. This is not a syndrome or a disease. Simply because there is no specificity to the number of birth defects from which an infant might suffer in VATER. More than one birth defect might manifest with VATER disease. This is clearly a genetic condition. There is some, albeit inconclusive, evidence that since some of the symptoms of VATER are similar to Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina), that the X chromosome defects might have a role to play (Guerrier, Mouchel, Pasquier, & Pellerin, 2006). But the gene that specifically causes this condition has not been identified. Some believe that there is internal variance within a system-this is also called mosaicism. This essay will be about the diagnosis, treatment and short- and long-term prognosis of this condition. In order to assess this, one needs to understand why this condition is named VATER. VATER stands for V (Vertebral Anomalies -- where half of the vertebra is formed or the bones are abnormally small), a (Anal defects, such as anal atresia or imperforate anus), TE (Tracheo-Esophageal Defects -- Esophageal atresia with tracheo-esophageal fistula), R (Renal defects -- a single umbilical artery, which might be associated with urinary defects), L (Limb Defects -- absence or displaced digits or fused digits). One or more of these conditions can be simultaneously observed.

The diagnosis is often post-birth, because physical signs of the each manifestation of the condition are easily observed. In addition, lately, pre-natal tests have also begun to reveal potential symptoms of VATER. Hemivertebra (half a vertebra) were observed using a sonogram between 14-23 hours of gestational time, which have been shown by a high level of precision. (Tercanli, Troeger, Fahnenstich, Hosli, & Holzgreve, 2001)

Diagnosis of VATER

Some of this is covered in the previous section. Diagnosis is often done by observation, post-partum. The phenotypes of these diseases are very obvious, especially if more than one condition is observed. They include abnormal curvature and development of the spine and problems with limbs. Even the esophagus is prominent in the infant's ventral side. X-rays are useful in showing abnormality in spine and abnormal bone growth in the arms and legs. Echocardiograms can detect heart defects. Ultrasonography has been used to detect malignant bile duct stenosis. Renal agenesis (Al Kaissi et al., 2006)

Treatment and Prognosis

Based on the symptoms that VATER association presents, it would appear that treatment modalities would involve intensive and corrective, and perhaps, repeated or simultaneous, surgery. One of the concepts that are used in the treatment of VATER is combined surgery. This involves a team of surgeons who perform the surgeries simultaneously. A study on three patients illustrates this treatment method. A ten-month-old boy underwent surgery of the left aortic arch as well as esophagogastronomy for esophageal atresia. The second patient a 15-day-old girl also underwent a cardiac procedure and additional surgery to shift the diaphragm. An eight-month-old boy underwent surgery to repair an atrial septal defect and also surgery of the trachea. All surgeries were successful and the prognosis based on follow up testing was good. (Yamashiro et al., 2007)