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Today, 24 November 2009

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Question

My niece terminated her pregnancy at 19 weeks after discovering that the baby has Robert's syndrome. This seems to be a rare disease and it is difficult to find information about it. She is, understandably, nervous of further pregnancy. Can you supply any information on this syndrome?

Answer

Robert's syndrome is indeed extremely rare and it was difficult to get much information, even from specialised sites on the Internet. None of these sites were aimed at the lay person, so would probably not enlighten you much.

Robert's syndrome occurs probably as a result of chromosome damage during cell division. The genetics are complicated and controversial.

The syndrome is characterised by loss of limb bones, but many other abnormalities are found, such as cleft palate, heart defects and abnormalities of the abdominal organs. It occurs in varying severity and there are milder forms in which the baby will live.

Because it is so rare your niece needs genetic counselling from someone expert in rare genetic disorders. She is most likely to find such a person at your nearest academic hospital. She should ask her obstetrician to refer her to such a person before contemplating another pregnancy.

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