Fragile X syndrome - Definition

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Definition


Fragile X syndrome, also known as Martin-Bell syndrome, is a genetic disorder caused by an anomalous chromosome. It is secondary to damage to the end part of the sexual chromosome X. Fragile X syndrome induces mental retardation in boys, carriers of one x chromosome, along with physiological abnormalities. They notably present with large, protruding ears, an elongated face, or even testicular hypertrophy called macroorchidism. Women are generally less affected than men, and if they are the disorder is less pronounced, with mental retardation incidence at only 50%. There currently exists no cure for this syndrome, and treatment consists essentially of educating and socializing.