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

Medically Reviewed by a doctor on 21 Dec 2018

Articles for trisomy 18

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

Health News