Trisomy 18
What are the features and symptoms?
Babies with Edwards' syndrome can have a wide range of different problems. Physical signs of Edwards' syndrome include: a small, abnormally shaped head a small jaw and mouth long fingers that overlap, with underdeveloped thumbsand clenched fists low-set ears smooth "rocker bottom" feet (with a rounded base) a Cleft lip and palate (a gap or split in the upper lip and/orthe roof of the mouth) an exomphalos (where the intestines are held in a sac outside the tummy) Babies with Edwards' syndrome also typically have: heart and kidney problems feeding problems leading to poor growth breathing problems hernias in the wall of their stomach (where internal tissues push through a weakness in the muscle wall) bone abnormalities such as a curved spine frequent infections of the lungs and urinary system a severe learning disability
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Introduction
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.
What are the features and symptoms?
Babies with Edwards' syndrome can have a wide range of different problems. Physical signs of Edwards' syndrome include: a small, abnormally shaped head a small jaw and mouth long fingers that ove
How does Edwards' syndrome happen?
Edwards' syndrome is rarely inherited and the condition is not caused by anything the parents have done. The development of three copies of chromosome 18 usually happens randomly during the formation
Types of Edwards' syndrome
There are two main types of Edwards' syndrome. Full form Approximately 94% of babies with Edwards' syndrome will have thefull form, where every cell in their body has three copies of chromosome 18,
Testing for Edwards' syndrome during pregnancy
Pregnant women are offered screening for Edwards syndrome between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition. The screening test, known as the combined test
Information about your child
If your child hasEdwards' syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scient
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