Symptoms and Types

Babies with Edwards' syndrome can have a wide range of different problems.

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 thumbs and 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/or the 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.

Types of Edwards' Syndrome

There are two main types of Edwards' Syndrome.

Full Form

Approximately 94% of babies with Edwards' syndrome will have the full form, where every cell in their body has three copies of chromosome 18, instead of two. Most babies with this form will die before infancy.

Mosaic Trisomy 18

About 5% of babies with Edwards' syndrome will have the extra copy of chromosome 18 in only some of their body cells.  This less severe form of the disease is known as mosaic Trisomy 18.

The severity of mosaic Trisomy 18 depends on the type and number of cells that have the extra chromosome.  Some babies may only be mildly affected, while some can be severely disabled.

Around seven in every 10 babies born with mosaic trisomy will live for at least a year and, in rare cases, babies with the condition may survive into early adulthood.