Marshall-Smith Syndrome
Marshall-Smith Syndrome Causes
No specific gene has been linked to Marshall-Smith syndrome and other genetic background is still not yet known.
Marshall-Smith Syndrome 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.
Marshall-Smith Syndrome 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.
Marshall-Smith 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
Marshall-Smith Syndrome 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.