[MLUG - DISCUSSION] Holt-Oram Syndrome

["Vern Green" <EMAIL:PROTECTED>]

As most of you know, my wife and I recently had a son. The happy time of our life was marred by the discovery that our son has both a ventricular septal defect and an atrial septal defect. We were concerned as all parents would be, but have been watching him closely and have been getting medical care from the hands of a very gifted cardiologist.

 

So today I was looking at his teeny little hands, and noticed an oddity on his left hand. It appears that he has five fingers on his left hand. Baby hands are kind of chubby and this is just starting to become apparent. His left hand is clearly different than his right, which appears to be more "normal".

 

I decided, probaby against my better judgement, to look this up hand defects on the Internet and found Holt-Oram Syndrome. It seems like it is rare, 1 n 100,000 have it, but it appears it is genetic. Neither my wife nor I have any knowledge of this ever occurring in either of our families, however, my wife is not so sure about her father's family. It is apparent in my reading that unless he has other bone issues we are not aware of, we are already aware of the most dangerous part of the disorder. I will just have to find ways for him to cope with the teasing he is bound to get when he gets to school.

 

Since this is a genetic disorder, and I know some on this list deal in genetic probabilities and such, I thought it would be interesting to throw this out there and see what the professionals have to say about it.

 

We currently do not have a clinical diagnosis of this, merely a syndome that matches the symptoms. I am more worried about the possibility of one of my other two sons having the problem, even though they have never been diagnosed with any sort of problems. Both are healthy for 10 and 12 years old.

 

No real question here, just some comments and some insight from those that deal in such things.
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Thanks
F Vernon Green

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