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Edwards' Syndrome, also known as Trisomy 18, is a severe genetic condition caused by the presence of an extra copy of chromosome 18. This chromosomal abnormality severely affects the development of the fetus, resulting in intellectual disability and multiple congenital defects.
read more about edwards syndrome ...Edwards' Syndrome is caused by having three copies of chromosome 18 instead of the usual two. This condition is rare, affecting about 1 in every 5,000 live births, and is not usually inherited, occurring randomly during the formation of reproductive cells.
Features include small head and jaw, low-set ears, and clenched hands with overlapping fingers. Rocker-bottom feet and prominent heel are common. Structural heart defects and growth restriction are frequent findings. Feeding difficulties and breathing problems arise soon after birth.
The condition poses severe challenges to lifespan. Due to the seriousness of the congenital heart defects and respiratory problems, many babies do not survive beyond the first year of life. Those who do require intensive, lifelong medical support.
Edwards' Syndrome directly impacts eye health, as ocular defects are common. These defects can include microphthalmia (small eyes), ptosis (droopy eyelids), cataracts (clouding of the lens), and severe strabismus (eye misalignment).
Support is focused on providing comfort and managing life-threatening medical conditions, particularly cardiac and respiratory issues. Early intervention programs are used to assist with developmental delays and physical therapy.
Yes, Trisomy 18 is a severe condition that significantly affects all major organ systems and development.
Yes, counseling is available for parents to understand the risks for future pregnancies.
Yes, the condition can often be detected during prenatal screening or diagnostic testing (Amniocentesis).
High-risk prenatal screening results require a consultation with a maternal-fetal medicine specialist. Children born with Edwards' Syndrome often have "clenched fists" and "rocker-bottom feet." Specialist palliative or neonatal intensive care is required from birth.
NHS. Edwards' Syndrome (nhs.uk). 2025.
MedlinePlus Genetics. Trisomy 18 (medlineplus.gov). 2021.
MedlinePlus. Trisomy 18 Overview (medlineplus.gov). 2023.
GOV.UK. Trisomy 18 Parent Info (gov.uk). 2025.