Marshall-Smith syndrome

Marshall-Smith syndrome
Classification and external resources
OMIM	602535
Orphanet	561
[]

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. Cases described in the literature show a clinical variability regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.

The syndrome is a rare clinical disorder.

The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1).

Respiratory complications are often cause of death in early infancy.

Marshall–Smith syndrome is not to be confused with:

After the first discovery and description of Marshall–Smith syndrome in 1971, research to this rare syndrome has been carried out.

...
Wikipedia