Research into Marshall-Smith Syndrome
The MSS Research Foundation and the Institute of Child Health from University College London have joined forces and decided to set up an initial research project to obtain detailed and reliable information on as many MSS children as possible, irrespective of where they live. The ultimate goal is to determine two things: What health issues arise as a result of MSS? And secondly, what are the causes of MSS?
Professor Hennekam tells more about this research:
"Marshall-Smith syndrome (MSS) is an infrequently described entity. It is a disorder which influences someone’s life in many ways: the growth in height, the developmental abilities, and also someone’s behaviour, but many other body parts participate as well like bone formation, respiration, or how well one can see.
All these aspects of MSS deserve careful attention. Only in that way parents and other caregivers can deliver the best possible care to the children.
Still, there is at present no one worldwide who has real knowledge of MSS. No one has ever tried to gather as much information as possible from as many MSS children and adults as possible. Only this way we will obtain real insight in the natural history of the disorder and all the complications, and gather experience in the various ways one can deal with these.
The MSS Research Foundation and the Institute of Child Health from the University College in London have therefore joined forces and decided to aim to obtain detailed and reliable information on as many MSS children as possible, irrespective where they live. For this we also have the help of the various specialists in Great Ormond Street Hospital for Children in London, which according to many is the world’s best children’s hospital.
The ultimate goal is to learn two things: how are the children doing, and what problems do they encounter exactly? And, secondly, what is the reason for this, so why does MSS arise in a child?
If we know both we will be able to return much information to all families. But hopefully we will also be able to prevent many of the sometimes life-threatening complications. Both should help parents and others around the children to provide the best possible care, and to allow the children with MSS to enjoy life to the max!
Raoul CM Hennekam MD PhD
Professor of Clinical Genetics and Dysmorphology
University College London
London, December 2007"
Soon there will be more information about the research on this website.
Would you like to join the research? Please fill in the contact form.