Rhombencephalosynapsis & Gomez Lopez Hernandez

WELCOME

A website for families affected by the above conditions to discuss ideas, therapies etc.  If we can discuss and share what we know - we just may be able to learn more about how to help the conditions.

A rare diagnoisis

Rhombencephalosynapsis is rare condition comprising of a fused cerebellum with complete or partial absence of the vermis (which normally divides the two hemispheres of the cerebellum),

Cerebello-Trigeminal Dermal Dysplasia (aka Gomez-Lopez-Hernandez Syndrome or GLHS)

A combination of Rhombencephalosynapsis, and bilateral symmetrical alopecia (equal bald spots on hair) which are required diagnostic criteria other symptons such as trigeminal anesthesia, dysmorphia and ataxia are sometimes also present  (taken from report by Eur J Pedietr Dec 2010)

 

Use of this Website

As a mum with a child affected by these conditions, I have set up this website as a place to file information and share ideas on specific issues.  A number of other families have helped develop the website contributing various information.  A huge thank you to Margaret for upgrading the site. 

Many families newly diagnosed with these conditions face the same basic struggle - the condition is so rare even medical professionals know little.  It is hoped that this website will help both families and medical professionals find out more about what it is and what treatments are available.I 

Lucy Jones