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Child is underweight, born with single umbilical artery, anal stenosis, tetralogy of Fallot and congenital subglottic stenosis. Should I contact VACTERL?

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I have a 13 year old son. He was born with multiple birth defects, but there was never a link or reason given to us between his various medical conditions.

He was born with a single umbilical artery, Tetralogy of Fallot, anal stenosis, and a congenital hard sublgottic stenosis.

Over the years, I have noticed he seems to have issues with food and eating. One of his "habits" is that he takes very small bites and chews his food very well. Although he had the diagnosis of subglottic stenosis that was discovered during intubation during his ToF correction, he has never had his esophagus evaluated as far as I know.

He was born at only 5lbs. 11oz, which is a pound or more less than my 3 other chidlren's birth weights. He is now 13 and is 4'11" tall and weighs only 66 lbs. dressed. He is decently underweight. He has always had a problem with his weight.

I came across VACTERL association recently and it caught my attention. I know my son doesn't fit exactly, but the areas of all of his medical issues seem to present in the same areas associated with VACTERL. He does not have any limb defects and I am not aware of any kidney or vertebral defects, but from what I read not all pieces have to be present.

Should I question VACTERL association with my son and would a diagnosis make a difference at this point in his life?
Posted Fri, 24 Aug 2012 in Child Health
Answered by Dr. Yogesh D 4 hours later

Thanks for the query.

I understand your concern, and I appreciate your efforts to understand the condition better.

With your description, it appears like we can assume that it could be VACTERL association, as a diagnosis of VACTRAL association needs only a minimum of any 3 defects to be present to make this diagnosis. But he still needs a complete and thorough physical examination by a internist or a pediatrician specialized in genetics and syndromes, because these know which things to look for. Suggest them what you think it is, it will make them look for any other defects.

I do not think your son has any serious defect, even if he has any. The fact that it isn't diagnosed/detected till now means it is very unlikely that he has any defect that needs any treatment.

But still, it is better to be completely sure of the things, so that if anything can be corrected, that can be corrected.

Weight of your son is of some concern, talk to the pediatrician and try to find out the reason for the particular eating habit of your son, it is possible that your son might have a small section of esophagus that might be a little stiff or narrow, which could be making your son eat less and smaller amounts each time.

A diagnosis at this point of life doesn't make much difference if there is no other defect, but since any congenital defect can be associated with other defects, it is best to settle this once and for all.

Please discuss with his pediatrician, or else talk to a neonatalogist in person so that you can understand this condition better.

As you might be knowing, there is no one identifiable cause for this VACTERL association, there is little that can be done to cure this, but any other issues, that can potentially cause problems in the future can be identified and corrected if necessary.

So making the right diagnosis is still required, even after 14 years.

Hope I have answered your querry completely. Please write back if you have any more questions regarding your son.

Wishing your son and you good health.

Warm regards.

Dr. Yogesh. D
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