Now that we have a diagnosis I want to reach out to the world and hope that we can help some other family. Ben now 30 was just diagnosed with the above syndrome. Unfortunately it was because my step daughter (carrier) just gave birth to a boy who was afflicted. On muscle biopsy the suspicion of Allan Herdon Dudley Syndrome was found, blood test confirmed it. We had Ben tested and yes that was it. This syndrome has many different health problems that manifest but yet share many of the same characteristics. I want to put this out there to reach out, and if someone sees this and sees another community to join please let me know. So here is some of what you may see. Slow development of infant, not making markers. Hard to suckle. Reflux, hyper hypotonia. Crying above what would be normal. The head may be larger than normal. This all started the ball rolling for our grandson. Many male relatives have died from this. So to suspect this we were told: a male with severe mental retardation with no known cause, mother with thyroid problems, developmental delays, problems suckling and reflux. Grandson had shown no development on meating baby markers, he could not hold his head up, problems eating, problems with reflux, Soon they did an MRI and EEG, found problems all of which I am not sure. (his mother has Aspberger's and communication is poor) They did a muscle biopsy which I talk about above. He had a g tube placed at 12 months old. He was only 19 lbs when he passed away. Seizures is another problem that may arrise. Ben had all of these and seizures petite mal developed around 2 years old. The hypertonia became very obvious in the way his limbs were very thin and weak muscle tone, his arms would be out straight yet hard to bend arms to get clothes on. He did alot of crying ( I mean all night long until he was about 22). He has never talked, walked, has never used his hands, can not hol his head up. Qudrapalegic from birth. He has a g tube since about 2. BUT he loves people and smiles and gives us the best belly laughs. Lots more to say but if you have any questions please do not hesitate to write, I am here for support and perhas direct anyone with questions to the right place. There is no cure. Development stops in the fetus. After that they decline and/or as ib Ben's case become stable.