The Marshall-Smith syndrome (MSS) is a very infrequently described syndrome that seriously affects the development of the bone and nervous system. Children with MSS may have problems with growth, nutrition and mental and motor retardation. MSS is caused by a change in the gene NFIX. In order to better understand the effect of this gene and to identify medicines for possible treatments, a lot of research is still needed. And people who support us to get the best out of life together. Also for children with MSS.

Signs and symptoms

The most notable are shallow orbits, retracted chin, a clearly visible forehead and problems with growth.

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The cause

It is a congenital abnormality caused by a change in the gene NFIX.

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Diagnosis is based on a careful physical examination, X-rays and by testing for a change in the gene NFIX.

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Our goal

Through further research, we especially want to understand better the effect of the gene NFIX.

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The characteristics of MSS

• Accelerated bone formation.

• Problems with growth and nutrition.

• Difficulty breathing

• Unusual facial features as clearly visible forehead, shallow orbits, retracted chin, sunken nose bridge and bluish eye whites.

• Mental and motor retardation.

• Hearing impairment aand ear defects

• Scoliosis (lateral curvature of the back) and kyphosis (forward curved upper part of the back).

The cause

MSS is caused by a change in the gene NFIX. This defective gene affects and causes problems in the (development of) organs, such as the brain, the lungs and the bones. This causes, among other things, difficulty breathing, problems with growth and mental and motor retardation.


Besides the facial features and X-rays the diagnosis is determined on the basis of DNA research, in which a change is found in the gene NFIX. Until now all children and adults in whom the diagnosis has been made in a reliable way have had a change in this gene. The change is only present in the child with MSS and not in one of the parents

Our goal with further research

By understanding the effects of the gene NFIX, we are able to identify medicines more quickly, whereby possible treatments (medicines and therapies) become available for children with MSS.

Let's make the world of MSS bigger together. Join MSS and donate to the research. Thanks in advance!

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