Brochure Page page 1

Parents Brochure Page 1

COSTELLO SYNDROME

A parent-to-parent brochure
By Lisa Schoyer,
© 2003 logo © 1997
both brochure and logo may be copied in their entirety with acknowledgement of author/designer

WELCOME to our group!

We hope to provide you with support and understanding, and share what we know as we learn more about this very rare syndrome. If you are interested in looking at more photos of our children, Please visit the photo pages from the main page, or from the link in the menuebar.

"Costello Syndrome is a distinct multiple congenital malformation syndrome characterized by postnatal growth retardation, distinctive face, lax skin, and developmental delay. The cause remains uncertain; although the facial traits bear a remarkable resemblance to a storage disorder, there is no progressive coarsening with age. Either an autosomal dominant mutation in a single gene or a microdeletion seems the most probable cause."*

Many of us received our children's diagnosis as "probable," having some but not all the markers, with poor chances of it becoming definite. This is because there is no way, other than by "clinical observation" to make the diagnosis.

You may have already heard from your child's geneticist that your child very well might have a combination of disorders, possibly some of which are not yet defined. Some of you have had many biopsies done to help try to define your child's disorder, and they all come back "Within Normal Limits."

Another thing we notice about Costello Syndrome beyond the two most common identifying features (feeding issues, or Failure to Thrive and global developmental delay) is its breadth.

With what we guess to be 300 cases identified WORLDWIDE, our children are the information from which the scientists and doctors are making theories! Your child is 1 in 30 million.

The Importance of Parent-to-Parent Communication

In addition to doctors and researchers observing our children for patterns, we parents have been important participants in developing a more detailed picture of what Costello syndrome is. Our direct communication with each other speeds up the identification of a pattern, and starts an immediate database for a doctor interested in following the research.