The standard refernce online for genetic disorders is OMIM - Online Mendelian
Inheritance in Man. The URL for the US site is
http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html
Enter Riley and Smith as two separate words, tick the Title box below and then
search, there is only one entry that matches, this gives you a summary of all
the research published on this disorder.
Andrew
scholzfam5 at mindspring.com wrote:
> Hi Group,
> I was hoping to get some information on Riley Smith syndrome also known as
> Macrocephaly-hamartomas-papilledeme. A very good friend of mine was just
> told that her son has all of the symptoms of this syndrome and we can not
> find any info on it. The only thing the doctors have said is, is that if he
> has it he will be like the 8th child in the world diagnosed with it. Can
> anyone help us find some info on it. He has the 6 classic symptoms of it so
> we really want to read up on what they are up against. PLEASE HELP!!
> Tracy
