Feb 25, 2008 04:51AM - edited Feb 25, 2008 08:13AM by leaf
I hadn't heard of it before, but here is a link to a Pubmed abstract.
Have you had genetic counseling? That would be my first step if you suspect you may have a genetic disorder, especially an uncommon one. Its not always wise to try to diagnose oneself.
When I went for genetic counseling, the counselor said I had a low probability of having a very rare genetic disorder. I had all the external qualifications for it (if you count my condition as breast cancer), but when it went to the board (meeting of doctors) they thought it would be a real stretch if I had it and it was not medically necessary. I chose not to be tested (at least for now) as it would be out of pocket.
Its the board-certified genetic counselors that are up on this stuff, usually found at a major institution.