Symptoms of Edwards’ Syndrome
The symptoms of Edwards’ syndrome are wide-ranging and often visible before or shortly after birth. The condition affects growth, development, and organ function. Babies with Edwards’ syndrome usually show multiple physical abnormalities, as well as severe intellectual and developmental delays. These signs help doctors suspect and confirm the diagnosis early.
During pregnancy, ultrasound scans may show:
Low birth weight
Excess amniotic fluid (polyhydramnios)
A small placenta
Reduced foetal movement
Congenital heart defects
Once the baby is born, common physical features include:
A small, misshapen head (microcephaly)
A prominent back part of the head (occiput)
Low-set ears
A small jaw and mouth
Clenched fists with overlapping fingers
Rocker-bottom feet
Short breastbone
Narrow eyelid openings
Many babies also have structural problems in the heart, kidneys, lungs, and digestive system. Heart defects are particularly common and include holes between heart chambers (ventricular or atrial septal defects) or valve abnormalities. These can lead to severe breathing and circulation problems.
Feeding difficulties are also a major symptom. Many babies struggle to suck or swallow effectively, leading to poor weight gain and increased risk of aspiration or infections. Breathing may be irregular due to underdeveloped lungs or nerve dysfunction.
Developmentally, most children with Edwards’ syndrome do not reach typical milestones. They may not sit, crawl, or speak. Some may respond to sound or touch, but progress is extremely limited. Seizures and neurological impairments are also common.
Symptoms of Edwards’ Syndrome
In South Africa, detection of symptoms may be delayed if the baby is born in a setting without trained staff or access to specialised care. Community healthcare workers play an essential role in identifying signs early and referring families for support.
While the symptoms of Edwards’ syndrome are often severe, the degree can vary—especially in mosaic or partial trisomy 18. Some children may live longer than expected and show small signs of progress with the right medical and emotional care.
Recognising the symptoms of Edwards’ syndrome allows for early intervention, accurate diagnosis, and compassionate care. Families facing this diagnosis deserve access to honest, supportive information that helps them make the best decisions for their unique circumstances.
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