First of all lets sort out the name, VACTERL Association is a revision of the previous name VATER Syndrome, which others still use to this day. Since the name was founded, it has been noted that other issues are also connected, thus the name was expanded to cover these new areas. Whilst both names describe the same condition, we like to use the more descriptive VACTERL Association, but at the end of the day we are talking about the same thing. In time who knows, maybe this name will be expanded even more!
VACTERL Association is not a singular condition, it is a collection, or as we like to call it an association of birth defects all connected in some way. To put it simply, a set of non-random birth defects.
No specific genetic or chromosome defect has been identified with VACTERL association as yet, although VACTERL related issues can be seen with some chromosomal defects, such as Trisomy 18. Whilst there is currently speculation that it can be a seen more readily in children of diabetic mothers, VACTERL association is thought to stem from multiple factors meaning it's origin is unknown at present.
The word VACTERL is made up of the areas that are affected by the condition, with each letter standing for a particular area affected [vertebral, anal, cardio, tracheo-esophageal, renal, limb]. Due to the founding of the name VACTERL being based on the american spelling of the word oesophageal we finally end up with the following acronym V.A.C.T.E.R.L. as can be seen in the left hand menu.
Each area is affected by VACTERL in it's own way, ranging from limb malformations through to kidney issues, with most children being identified with having 3 or more of the affected areas before being classed with VACTERL association.
In addition to VACTERL specific issues, other issues can also be noted as being prevalent in children with VACTERL. Whilst these other issues may not be directly connected to VACTERL, it does seem more likely that a VACTERL child will suffer from these other conditions in addition to VACTERL association.
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