Marshall-Smith Syndrome Overview

Save information for later
Sign Up

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. Hennekam and 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 and 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.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Marshall-Smith Syndrome
Rajesh V. Thakker
Elite in Marshall-Smith Syndrome
Rajesh V. Thakker
London, ENG, GB 

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

View All Doctors
What are the latest Marshall-Smith Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

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