Fragile X (Martin Bell) syndrome

Fragile X syndrome is a neurodevelopmental disorder that results from a single gene mutation on the X chromosome. It is the most common genetic cause of learning disability, though many patients remain unrecognized. Fragile X syndrome is characterized phenotypically mainly by a long coarse face, prominent ears and macro-orchidism. Affected individuals are also mentally challenged and may have mitral valve prolapse, and seizures. A case of Fragile X syndrome is reported, with oral findings and potential management difficulties in oral care.