Marshall-Smith Syndrome Overview

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Learn About Marshall-Smith Syndrome

What is the definition of 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 genetic changes 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) genetic change.
What are the alternative names for Marshall-Smith Syndrome?
  • Marshall-Smith syndrome
Who are the top Marshall-Smith Syndrome Local Doctors?
Elite in Marshall-Smith Syndrome
Raoul C. Hennekam
Elite in Marshall-Smith Syndrome
Raoul C. Hennekam
Amsterdam, NH, NL 

Raoul Hennekam practices in Amsterdam, Netherlands. Mr. Hennekam is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Nicolaides-Baraitser Syndrome, Marshall-Smith Syndrome, Micrognathia, and Trichorhinophalangeal Syndrome Type 2.

Elite in Marshall-Smith Syndrome
Kreepa G. Kooblall
Elite in Marshall-Smith Syndrome
Kreepa G. Kooblall
Oxford, ENG, GB 

Kreepa Kooblall practices in Oxford, United Kingdom. Kooblall is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. Their top areas of expertise are Marshall-Smith Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia, and Septo-Optic Dysplasia.

 
 
 
 
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Elite in Marshall-Smith Syndrome
Rajesh V. Thakker
Elite in Marshall-Smith Syndrome
Rajesh V. Thakker
Oxford, ENG, GB 

Rajesh Thakker practices in Oxford, United Kingdom. Mr. Thakker is rated as an Elite expert by MediFind in the treatment of Marshall-Smith Syndrome. His top areas of expertise are Hypercalcemia, Milk-Alkali Syndrome, Multiple Endocrine Neoplasia Type 1, Parathyroidectomy, and Thyroidectomy.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center