What is the Marshall-Smith Syndrome?

The Marshall-Smith Syndrome (hereafter abbreviated to MSS) is a congenital condition. It cannot be cured. However, there are treatments to relieve some of the symptoms, but even with the best of care there will be challenges and health issues. The word syndrome means the occurrence of several symptoms. Besides the visible symptoms there are also mental and physical symptoms. People often notice the physical appearance of a person with MSS first. You can see that the eyes are more protruding for example and that the teeth are extended further forward. People with MSS have an intellectual disability. They also have physical disabilities such as problems with breathing, hearing and body movement. There is a more detailed overview of the symptoms available. The page What can you expect over the longer term deals with the development of the disease over time. 

When people ask you what the Marshall-Smith syndrome is

MSS is an ultra-rare condition. Only 66 people worldwide are known to have MSS. When people ask you what the Marshall-Smith syndrome is… It can be difficult to give a short and clear answer to this question. You could say: “My child has a syndrome which results in 3 things: a different appearance, an intellectual disability and (many) physical problems.” You could then mention a few examples: “She has more protruding eyes than other children”, “He has difficulty breathing because of constricted airways” and “She is now 3 years old and has learned to crawl. Most other children are already walking at this age”.