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Hello and thank you for your post. Please understand that this is a complex case that I can give you some ideas about but won't be able to solve for you today.
With regards XXXXX XXXXX's disease, this is autosomal recessive so the chances that his has this are very slim (Dad would have to be a carrier and then the risk would only be 50%). The children with Wilson's disease I have seen have no facial abnormalities (other than Kayser-Fleischer rings in the eyes).
With regards XXXXX XXXXX your son might have, there are many possibilities. One that comes to mind is Russell-Silver syndrome, where you can have a broad forehead but this also usually includes differences in size between one side of the body and another. If you go to OMIM, which can be found here http://www.ncbi.nlm.nih.gov/omim/, then you can type in your son's features to see if anything comes up (use "hypertelorism" for wide-spaced eyes).
I would ask for early intervention to see him and see if he qualifies for services based on the delays he might have. This is typically free or low cost and they may even come to your home.
I would also go back and see the geneticist at Cardinal Glennon again and see if your son can be looked at again and some lab tests done.
I hope this helps. I know it's not an answer but hopefully can give you some ideas. Please let me know if I can help further. Best of luck. Sincerely, XXXXX XXXXX
I agree--have the evaluation done now. Often the earlier the intervention is done, the better it works. I am not sure why they are so resistant to this idea.
No other specific syndrome comes to mind. I typed in "macrocephaly" (big head) and "hypertelorism" and "low-set ears" and got 33 matches. Best to do this yourself and add anything else there is in terms of physical exam findings.
I hope this helps. Good luck to you and to him. Sincerely, XXXXX XXXXX
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