Marshall-Smith syndrome

Other Names:
Marshall syndrome
Stickler syndrome

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.

Related Problems:
Sotos syndrome
Medicine Pathology
Problem Type:
G: Very specific problems
Date of last update
04.10.2020 – 22:48 CEST