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 intellectual disability.
Cases described in the literature show a clinical variability regarding related symptoms.
[2] The first gene - NFIX - that could cause the syndrome has been identified.
[5] This gene is located on the short arm of chromosome 19 (19p13.1).
[citation needed] Respiratory complications are often cause of death in early infancy.