Thanks for the replies we really appreciate it.
I work in a related area and I'm afraid to say that if they don't know what the syndrome is and the genetic defect that causes it they can't test for it. It's like looking for a needle in a haystack if you don't know what a needle looks like. Are you saying that a number of people in your family are affected but none of them have had a definitive diagnosis? Have you had any contact with the national centre for medical genetics in Crumlin? Have any of the consultants looking after your relatives investigated this and looked for help from their international colleagues? I'm sorry I can't really give you an answer, it's a very worrying situation to be in
cat in the hat
agree with jocasta - very hard to find something when you don't actually know what you are looking for.
would you consider making contact with the genetics department in Great Ormond Street Hosp in London and see if you can get an appointment with them?