Edwards Syndrome

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Edwards syndrome , also known as trisomy 18 , is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18 . Many parts of the body are affected. Babies are often born small and have heart defects . Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability . [2]

Edwards' syndrome, also known as trisomy 18, is a serious genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body.

The clinical presentation of Edwards' syndrome is characterised by antenatal growth deficiency, specific craniofacial features, major system malformations and marked psychomotor and cognitive developmental delay. Features that may be noted after birth include: [ 7 ]

Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18 , the chance of having a child with this condition increases as a woman gets older.


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