Roberts syndrome


What is Roberts syndrome?

Roberts syndrome is a rare genetic disorder. It is caused by a spelling change in a gene called ESCO2. This spelling change results in abnormal growth and development of different parts of the body, most often the arms, legs, and face. Children with Roberts syndrome are often born with short arms and legs and are sometimes missing toes and fingers. They may also have facial features that look different than other people in their family. Children with Roberts syndrome are often born with an opening in the roof of the mouth (cleft palate), an opening in the upper lip (cleft lip), a small chin (micrognathia), eyes that are far apart (hypertelorism), down-slanting eyes, small head size (microcephaly), and a small, pointed nose. They can also have problems with their heart, kidneys, and genitals. Some people with Roberts syndrome have more features, while another people with Roberts syndrome have fewer features. There is a range of severity for this condition.

National Organization for Rare Disorders. Roberts Syndrome

Roberts syndrome. (2016). U.S. National Library of Medicine.

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