My son is 8 months old...he was born at 31 weeks gestation with the cord around his neck 6 times. He has been seen by many doctors and will begin being seen at the University of Michigan in April. Here is the problem: Ashtyn has an abnormal auditory response...you can yell, scream, bang things together and he pays NO attention, when 3 hours later you can do the same thing and he will look right at you. He has a large head, wide set eyes that are almond shaped and slant upward, a flat nose bridge, miss-shaped ears, and developmental delays. They first thought he had Cortical Visual Impairment because he always had his head turned to the right and was not tracking at almost 5 months old....so we went to a neurologist who told us that it was not his vision (he had started tracking), that it was his hearing. So, he scheduled an MRI, a BAER, genetic testing (chromosome tests, DNA mutation analysis), and every other blood test under the sun! Everything came back normal except his urine showed a substance that causes kidney stones in some people and there was slight damage to the visual neglect area of the brain and it is NO WAY explains his hearing problems! The neurologist at that point told us that there is DEFINATLY something wrong here, but for some reason, none of the tests is telling us what it is. So, my question is, could this be downs syndrome??? He fits EVERY characterists, and from birth, many have said tha the looks like a downs baby! We have NO explaination for this....is it possible that it is mosiac trisomy 21? We are DESPERATE for answers because Ashtyn is behind in language and other areas. He is 8 months old and squals when he is mad and makes no attempt at one syllable words, he does not sit up, he has feeding problems and recently stopped taking solids completely. PLEASE help in any way! Does this sound like a genetic disorder or syndrome that we have failed to test for????