Liesbeth Laan, a school nurse based in The Hague, Netherlands, had a smooth pregnancy and delivered Joas at home in July 2006. But for the first six months of his life, the baby boy was in and out of hospital. 'Immediately after his birth, he had breathing difficulties and stayed in the hospital for a month. He had a narrowed throat and nose and he had to be fed with a gastric tube. Because of his problems and some unusual facial features it was clear to us that Joas had a syndrome but even after many tests, no diagnosis was reached,' recalls Henk-Willem Laan, Joas' father. Two months later, doctors discovered that Joas had advanced glaucoma, resulting in his first surgery.

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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?

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Marshall-Smith syndrome is a very rare syndrome.

Marshall-Smith syndrome is a childhood condition involving specific facial characteristics, bone maturation that is advanced for the individual's age, failure to grow and gain weight appropriate for the individual's age, and severe respiratory (breathing) problems.

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