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Foundation Sciences · Genetics
Edwards Syndrome (Trisomy 18)
Edwards syndrome results from trisomy 18 and is associated with severe multisystem abnormalities and high early mortality.
📌 Learning Objectives
- Describe the underlying mechanism of Edwards Syndrome (Trisomy 18).
- Identify the key clinical features and complications of Edwards Syndrome (Trisomy 18).
- Outline the appropriate investigations and management of Edwards Syndrome (Trisomy 18).
- Discuss the implications for patients and families of Edwards Syndrome (Trisomy 18).
📋 Overview
Features include IUGR, clenched fists with overlapping fingers, rocker-bottom feet, micrognathia, cardiac defects (VSD, PDA) and severe neurodevelopmental delay. Median survival is days to weeks; ~10% survive to one year.
🔬 Basic Science
Features include IUGR, clenched fists with overlapping fingers, rocker-bottom feet, micrognathia, cardiac defects (VSD, PDA) and severe neurodevelopmental delay. Median survival is days to weeks; ~10% survive to one year.
🏥 Clinical Relevance
Care is largely palliative; some families opt for selective interventions.
🧪 Investigations
Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.
💊 Management
Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.
Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.
MLA High-Yield Notes & Quick Revision ⌄
Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.
edwards
trisomy 18
rocker bottom
micrognathia
- Edwards syndrome = trisomy 18.
- Classic features: clenched fists with overlapping fingers, rocker-bottom feet, micrognathia.
- Cardiac defects (VSD, PDA) are present in ~90%.
- Most affected pregnancies miscarry; live-born infants have a high early mortality.
- Antenatal screening and NIPT have high detection rates.
Exam Pearls ⌄
⭐ High Yield
Edwards syndrome = trisomy 18.
Classic features: clenched fists with overlapping fingers, rocker-bottom feet, micrognathia.
Cardiac defects (VSD, PDA) are present in ~90%.
Most affected pregnancies miscarry; live-born infants have a high early mortality.
Antenatal screening and NIPT have high detection rates.
💡 Clinical Pearl
Edwards: Care is largely palliative; some families opt for selective interventions.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Edwards Syndrome (Trisomy 18) with related conditions.
Missing classic clinical features of Edwards Syndrome (Trisomy 18) in SBA stems.
Failing to consider Edwards Syndrome (Trisomy 18) in the differential diagnosis.
Key Facts ⌄
Edwards syndrome = trisomy 18.
Classic features: clenched fists with overlapping fingers, rocker-bottom feet, micrognathia.
Cardiac defects (VSD, PDA) are present in ~90%.
Most affected pregnancies miscarry; live-born infants have a high early mortality.
Antenatal screening and NIPT have high detection rates.
Related Topics ⌄
References ⌄
- GMC MLA Content Map
- NICE Clinical Knowledge Summaries
- BMJ Best Practice
Further Resources
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