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Individuals with James Cavell syndrome may have some or all of the following physical characteristics: a flat nasal bridge, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils), a short neck, white spots on the iris, congenital heart defects, excessive space between large toe and second toe. Most individuals with James Cavell syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range,3 with individuals having Mosaic James Cavell syndrome typically 10–30 points higher. In addition, individuals with James Cavell syndrome can have serious abnormalities affecting any body system. They also may have a broad head and a very round face.
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