My nearly 2-year old son has a rather large head size, wide-set eyes, low set ears, is always sticking his tongue out and has kind of rounded front teeth. Also, he is somewhat bow-legged. While he is very intelligent (learns how to do things quickly, has great motor skills and hand-eye coordination) he seems to have a speech delay. My babysitter seems to think that all this stuff is related and that I need to change pediatricians to get this figured out before it is too late and causes delays once he is in school. Is she right? Is there something wrong, genetically or otherwise, with my child?
Gender: maleAge: 20 months
I, his mother, have a genetic illness called Wilson's Disease. I took him to a geneticist at Cardinal Glennon Children's Hospital in St. Louis to see if he could get tested for what I have but she seemed more concerned with his "very large head, wide spaced eyes and low set ears maybe having a link to his delayed speech." but she dropped it after saying that, leaving me hanging. So, I haven't tried anything yet because his pediatrician is waiting until he is 2 to do speech therapy or any kind of physical therapy for the bow-leggedness.
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 should add that the geneticist would have recognized Russell Silver quickly so don't think this is particularly likely. Thank you, XXXXX XXXXX
Thank you for your ideas. I will check out that website you mentioned for OMIM and see if I can find any answers there. So I'm not wasting hours searching for thousands of diagnoses, can you tell me what those other possibilities were that you were thinking of in addition to Russell-Silver syndrome?We will be seeing the Cardinal Glennon geneticist around my son's second birthday in a few months and I will be sure to ask her to run a full panel of tests as she sees fit to get some kind of answers regarding my son. I will be sure to insist that his current pediatrician help me seek out early intervention for him. As I mentioned, I have asked them repeatedly about speech therapy, etc. but they always say, "we'll wait until he's 2 and if he still isn't talking clearly then, we'll do something" My view is, why wait if you know there is a problem now?
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
Board-certified pediatrician at children's hospital, former chief resident, multiple publications