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  1. Marshall-Smith syndrome (MSS) is a very infrequent condition that affects bone formation, growth, nutrition, breathing, and mental development. It is caused by a spontaneous mutation in the NFIX gene and has no known cure or treatment.

  2. 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.

  3. Oct 20, 2020 · Marshall-Smith syndrome (MSS) is a genetic condition that causes rapid and abnormal bone maturation, low muscle tone, respiratory issues, and distinctive facial features. Learn about the symptoms, causes, treatment, and similar disorders of MSS from NORD, a nonprofit organization for rare diseases.

  4. Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation.

  5. Learn about the rare genetic disorder Marshall-Smith Syndrome (MSS), caused by a mutation in the NFIX gene. Find out the latest research, news, events and stories of people with MSS from Amsterdam UMC and University of Oxford.

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  7. Marshall-Smith syndrome (MSS) is an ultra-rare, genetic disorder that causes multiple congenital anomalies. MSS was first described in 1971 by physicians R.E. Marshall, C.B. Graham, C.R. Scott, and D.W. Smith. Since then, fewer than 100 cases have been described in worldwide medical literature.

  8. Marshall-Smith syndrome is a rare genetic condition that causes abnormal bone maturation, skeletal anomalies, airway obstructions, failure to thrive, developmental delay and intellectual disability. It is caused by de novo variants in the NFIX gene and has a poor prognosis due to respiratory complications.

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