© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Marshall-Smith Syndrome

Description:
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 variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.

Testing:
No clinical testing available. Research studies available.

More information:
Marshall-Smith Syndrome