What is MSS?

The Marshall-Smith syndrome (MSS) has been described for the first time in 1971 by Richard E. Marshall and David W. Smith. It is a serious syndrome with accelerated bone formation, dangerous complications and mental and motor retardation. MSS is a very infrequently described syndrome: about 3 children with the syndrome are known in the medical literature in Holland and 50 children and adults worldwide.

Signs and symptoms

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

The cause

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

Diagnosis

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

Our goal

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

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