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227. What is Roberts syndrome ?




*Roberts syndrome* is a genetic disorder characterized by limb and facial abnormalities.They have shortened arm and leg bones (hypomelia), particularly the bones in their forearms and lower legs. In severe cases, the limbs may be so short that the hands and feet are located very close to the body (phocomelia).Individuals with Roberts syndrome typically have numerous facial abnormalities, including a cleft lip with or without cleft palate, micrognathia, ear abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that point downward (down-slanting palpebral fissures), small nostrils, and a beakednose. They may have microcephaly, and in severe cases encephalocele. In addition, people with Roberts syndrome may have heart, kidney, and genital abnormalities.

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