MARSHALL-SMITH SYNDROME & TREATMENT
Definition: What is "marshall-smith syndrome"?
Marshall-Smith syndrome is a rare genetic disorder involving specific facial features, remarkable accelerated skeletal maturation, failure to grow & thrive & breathing problems that are severe in nature.
Symptoms & Signs
Specific facial features of a person with Marshall-Smith syndrome include: * Wide & prominent forehead * Protruding eyes that are widely spaced apart * Small & 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 & thrive which makes them smaller than other children of the same age * Larynx & 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
Treatment: How to Treat "marshall-smith syndrome"?
Long hospital care involving treatment for severe respiratory problems is usually necessary for Marshall-Smith syndrome. Supportive treatment aimed at treating the present symptoms & minimizing the development of complications is usual part of management of the syndrome.
No specific gene has been linked to Marshall-Smith syndrome & other genetic background is still not yet known.
Thorough physical examination & 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.