A to Z of syndromes

A-Z of syndromes: Edwards’ syndrome

Disorders and diseases with common symptoms that constitute syndromes.

Disorders and diseases with common symptoms that constitute syndromes.

Karyotype showing the arrangement of chromosomes in a male or female with Edward’s syndrome. Picture: SPL

Edwards’ syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

First described in 1960 by geneticist John Edwards, the syndrome is caused by incomplete chromosomal division during production of sperm or ovum.

The syndrome is usually due to an extra chromosome on the 18th pair, and so is also called Trisomy 18. More rarely it is caused by a type of mosaicism.


Infants born with full Edwards’ syndrome usually have life-threatening malformations from the outset and a poor prognosis. If the syndrome is caused by mosaicism, however, the prognosis is more positive.

Edwards’ syndrome is associated with:

  • Structural abnormalities, including ventricular and atrial septal defects, and patent ductus arteriosus. 
  • Gastrointestinal anomalies, such as oesophageal atresia or exomphalos.
  • Skeletal anomalies, including arthrogryposis, which causes joint contractures at birth, as well as deformities of the sternum, feet and hands.

Typical facial characteristics are microcephaly, a prominent occiput, low-set and sometimes malformed ears. There are usually anomalies of the buccal cavity and lower face, including micrognathia, cleft lip and palate. There may be a flat bridge to the nose, which is upturned. Children with Edwards’ syndrome have short eyelids and have difficulties closing their eyes. There will be cognitive impairment. 

Edwards’ syndrome  can be detected in routine antenatal care, in 90-95% of cases during 18-20 weeks’ ultrasound. There are also blood markers, but definitive diagnosis depends on chromosome analysis. 

Agreeing to manage care

The implications for children’s nurses depends on the agreed form of management. Some families request full supportive intervention, others prefer palliative care with their infant kept comfortable.

Anomalies can be so severe that the infant will survive only hours or days. In these cases, keeping the infant with the parents for a few precious memories supersedes all other considerations.  

For infants not in imminent danger, the syndrome can create a dilemma for parents. Surgical intervention may be possible but not necessarily in a family’s best interests, because multiple operations may cause pain and distress. The ability to feed is affected too, and the infant will require feeding by nasogastric tube or gastrostomy. 

In every case the parents’ decision must be respected. 

Case study 

Mustafa was a very small and weak baby. Before his birth genetic testing had suggested Edwards’ syndrome. His devoutly religious parents had not considered termination, but his mother agreed the infant would not be monitored during labour and that no aggressive resuscitation should take place if he was born in a poor condition.

Serious anomalies, including a complex cardiac lesion, small kidneys and large mid‑facial cleft, were identified during antenatal testing. The facial cleft prevented Mustafa from sucking, so small feeds were given via an orogastric tube. Neonatal nurses supported the midwives and the infant had lots of love and cuddles from his brothers and sisters, who visited shortly after his birth.

Preliminary plans had included transfer to a children’s hospice, but as Mustafa became weaker it was decided to keep him among staff who were familiar with him. He died after one week.


Further resources

Doreen Crawford is a nursing and midwifery senior lecturer at De Montfort University, Leicester

Annette Dearmun is divisional head of governance and nursing (children and women’s division) at Oxford University Hospitals NHS Trust

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