Marshall–Smith syndrome


Marshall-Smith Syndrome, discovered in 1971, is characterized by unusual accelerated skeletal maturation 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.

Presentation

The syndrome is a rare clinical disorder.
The first gene - NFIX - that could cause the syndrome has been identified. This gene is located on the short arm of chromosome 19.

Diagnosis

Respiratory complications are often cause of death in early infancy.

Differential diagnosis

Marshall–Smith syndrome is not to be confused with:

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