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Genetic and Rare Diseases Information Center (GARD)

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Marshall-Smith syndrome

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Your Question

I am a speech language pathologist with a child affected by Marshall-Smith syndrome on my caseload. Do the symptoms of this syndrome vary widely between patients? Is there any information regarding speech / language prognosis for these children?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Marshall-Smith syndrome?

Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[1][2] Less than 40 cases have been reported in the literature, mostly as single case reports or small series.[2] Early death is common due to respiratory complications.[3][4] The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation.[5] Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.[6][7] 
Last updated: 1/15/2010

What are the symptoms of Marshall-Smith syndrome?

Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia.[1][4] There are often problems with structures in the respiratory tract (such as the larynx and trachea) and this can lead to difficulty with breathing and frequent infections. Pneumonia is common.[4] Severe feeding difficulties may also result. X-rays show advanced bone age and short and conical phalanges (finger and/or toes bones).[5]
Last updated: 1/15/2010

Do the symptoms of Marshall-Smith syndrome vary widely between patients?

Yes, the symptoms of Marshall-Smith syndrome vary widely between patients.[4][5] No two patients with Marshall-Smith syndrome have the exact same symptoms. The morbidity and mortality associated with this condition also varies. Some children with Marshall-Smith syndrome die early in infancy, others during the toddler years, and some later in childhood. Mortality appears to be highly correlated with the severity of respiratory problems.[4] However, even those who survive without major complications exhibit some degree of intellectual impairment.[4][5]
Last updated: 1/15/2010

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

While most of the literature available on Marshall-Smith syndrome 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 (utilizing PubMed) periodically for new reports and/or contact the MSS Research Foundation, a support organization for Marshall-Smith syndrome, to see of they can provide you with anecdotal information.

Last updated: 1/15/2010