Marshall-Smith syndrome

What is Marshall-Smith syndrome?

Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), unique facial features, and intellectual disability. Other signs and symptoms of this condition may include eye abnormalities, breathing difficulties, and neurological issues. Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus).

MRSHSS is caused by mutations in the NFIX gene. Most individuals with MRSHSS are the first in their family with this condition and are said to have a spontaneous (de novo) mutation. Although there is no specific treatment or cure for MRSHSS, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms. Aggressive management of the early breathing and feeding problems may improve survival in individuals affected by this condition.

Last updated on 05-01-20

Is there any information regarding speech / language prognosis for children with Marshall-Smith syndrome (MRSHSS)?

While most of the literature available on MRSHSS is made up of case reports, we have not been able to locate any articles which specifically address the issue of speech and/or language development. We recommend that you check the medical literature by searching PubMed, a searchable database of medical literature periodically for new reports. You may also find it useful to contact one of the organizations supporting this condition, such as the MSS Research Foundation.

Last updated on 05-01-20

Name: MSS (Marshall-Smith Syndrome) Research Foundation Altingstraat 120 The Hague
The Netherlands NL 2593 SZ
Phone: +31 70 33 56956 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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