Definition:
Marshall-Smith syndrome is a rare genetic disorder involving specific facial features, remarkable accelerated skeletal maturation, failure to grow and thrive, and breathing problems that are severe in nature.
Diagnosis:
Thorough physical examination and analyzing the patient's medical history play a great part in diagnosis of Marshall-Smith syndrome because there is no genetic testing procedure that can diagnose the condition.
Treatment:
Long hospital care involving treatment for severe respiratory problems is usually necessary for Marshall-Smith syndrome. Supportive treatment aimed at treating the present symptoms and minimizing the development of complications is usual part of management of the syndrome.
Symptoms and Signs:
Specific facial features of a person with Marshall-Smith syndrome include:
* Wide and prominent forehead
* Protruding eyes that are widely spaced apart
* Small and upturned nose
* Remarkably small chin
* Depressed nose
* Shallow orbits
* Obstructing tongue
* Bluish sclera
* Coarse eyebrows
Other significant manifestations associated with Marshall-Smith syndrome:
* Remarkable mental delays
* Failure to grow and thrive which makes them smaller than other children of the same age
* Larynx and trachea structural defects resulting to breathing problems
* Recurring lung infection like pneumonia
* Accelerated bone maturation
* Mental deficiency
* Motor deficiency
* Broad bones in first two finger segments
* Narrow bones at the end of the fingers
* Hyperextension of neck
* Umbilical hernia
Causes:
No specific gene has been linked to Marshall-Smith syndrome and other genetic background is still not yet known.
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