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Edwards syndrome

Background

Edwards syndrome: Edward's syndrome; Trisomy 18; 18+ syndrome

Edwards syndrome is a chromosome abnormality where the child has an extra chromosome 18 in every cell. It is a rare disorder, seen in about 1 in 4,400 live births.

There are three types of the syndrome:

Full form – in this form, every cell in the body has three chromosome 18s instead of two (94 per cent of cases).

Mosaic form – in this form, some cells have two chromosome 18s while others have three. The extent and severity of the condition will depend upon the ratio of normal to abnormal cells.

Partial form – in some cases there may be an extra copy of part of chromosome 18. This is referred to as ‘partial trisomy 18’. The effects of this may be milder and would require further specialist advice.

Children with the full form do not normally survive beyond infancy, with about 5 to 10 in 100 expected to live past one year of age. Those affected by the mosaic and partial forms may survive into adulthood, although this is still unusual.

What are the symptoms? View What are the symptoms?

Medical text written October 2010 by Dr Kate Baker, Specialty Registrar in Clinical Genetics, Addenbrookes Hospital, Cambridge, UK and Nora Shannon, Consultant Clinical Geneticist, Nottingham University Hospital, Nottingham, UK.

 

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