This blog is dedicated to differently-abled children, particularly those diagnosed with a radial ray defect, hematological issues, Failure to Thrive, developmental delays, microcephaly, cerebellar dysgenesis or cerebral palsy.

Monday, February 2, 2009

Gomez-Lopez-Hernandez Syndrome...maybe not so rare?

I've read many of the recent medical journal articles about GLHS, and as of February 2008 there were apparently only 19 people world-wide who had been diagnosed with this syndrome.

And Emma is almost certainly #20. So here I've been thinking that she is SO incredibly unusual in that she has both TAR Syndrome and GLHS.

Then I joined the Yahoo Group for parents of children with cerebellar issues.

I discovered within a few weeks that there are at least 2 other children whose parents/guardians are members of that group who also have GLHS. I also received an email recently from the mother of another Emma who probably has GLHS.

But the really interesting part is that, out of these 4 children that I know about (my Emma, the other Emma, plus the two kids through the Yahoo group), TWO of them have both GLHS and at least one missing radius bone (my Emma is one of them, obviously).

So I'm convinced that (1) there is a fundamental genetic connection between TAR Syndrome/radial ray defects and GLHS that has not yet been noticed by the medical research community, and (2) GLHS may not be nearly as rare as previously thought.

4 comments:

Winfred said...

Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals:

http://www.accessdna.com/condition/Thrombocytopenia-Absent_Radius_Syndrome/778.

I hope it helps. Thanks, AccessDNA

Russ said...

My son is diagnosed with GLH, however, he does not have a lot of the symptoms of the other children. The main reason for the diagnosis was Rhombencephalosynapsis, bare patches on the side of his head and some facial features. However, i just read this abstract that links VACTERL-H with Rhomb. as well as hydrocephalus. You can see the abstract here: http://www.ncbi.nlm.nih.gov/pubmed/19057916 When you look up the abnormalities of vacterl-h, is a missing radius, also, hydrocephalus.
I thought you may find this interesting.
My son's blog is: http://rsyn1.blogspot.com/

JoAnn said...

Thanks for the links, Russ! Your son is a real cutie!

Yes, VACTERL was one of the syndromes that they first considered when Emma was born, but the hematological and skeletal abnormalities were a better fit for TAR Syndrome. Of course, they did not know about the rhombencephalosynapsis at the time.

Subsequently, Emma's DNA has been tested and she does have the TARS micro deletion on chromosome 1q21.1. So even geneticists like Dr. Dobyns and Dr. Judith Hall say that she must be TARS + GLHS.

JoAnn said...

P.S. Dr. Dobyns is continuing to research this connection between missing radii and rhombencephalosynapsis. He suspects that there may be a whole spectrum of characteristics ranging between full up GLHS with no skeletal involvement to full up TAR Syndrome with no rhomb. With other stuff like VACTERL-H inbetween?