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Foundation Sciences · Genetics
Patau Syndrome (Trisomy 13)
Patau syndrome (trisomy 13) is characterised by midline defects, holoprosencephaly, cleft lip/palate and polydactyly with high early mortality.
📌 Learning Objectives
- Describe the underlying mechanism of Patau Syndrome (Trisomy 13).
- Identify the key clinical features and complications of Patau Syndrome (Trisomy 13).
- Outline the appropriate investigations and management of Patau Syndrome (Trisomy 13).
- Discuss the implications for patients and families of Patau Syndrome (Trisomy 13).
📋 Overview
Features include holoprosencephaly, microcephaly, cleft lip/palate, postaxial polydactyly, cardiac defects and severe developmental delay. Most infants die within the first year.
🔬 Basic Science
Features include holoprosencephaly, microcephaly, cleft lip/palate, postaxial polydactyly, cardiac defects and severe developmental delay. Most infants die within the first year.
🏥 Clinical Relevance
Management is largely palliative; multidisciplinary input supports families.
🧪 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.
patau
trisomy 13
holoprosencephaly
polydactyly
- Patau syndrome = trisomy 13.
- Classic features: holoprosencephaly, cleft lip/palate, postaxial polydactyly.
- Cardiac defects are present in most affected infants.
- Median survival is days; ~10% survive beyond one year.
- Patau syndrome is the third most common autosomal trisomy after T21 and T18.
Exam Pearls ⌄
⭐ High Yield
Patau syndrome = trisomy 13.
Classic features: holoprosencephaly, cleft lip/palate, postaxial polydactyly.
Cardiac defects are present in most affected infants.
Median survival is days; ~10% survive beyond one year.
Patau syndrome is the third most common autosomal trisomy after T21 and T18.
💡 Clinical Pearl
Patau: Management is largely palliative; multidisciplinary input supports families.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Patau Syndrome (Trisomy 13) with related conditions.
Missing classic clinical features of Patau Syndrome (Trisomy 13) in SBA stems.
Failing to consider Patau Syndrome (Trisomy 13) in the differential diagnosis.
Key Facts ⌄
Patau syndrome = trisomy 13.
Classic features: holoprosencephaly, cleft lip/palate, postaxial polydactyly.
Cardiac defects are present in most affected infants.
Median survival is days; ~10% survive beyond one year.
Patau syndrome is the third most common autosomal trisomy after T21 and T18.
Related Topics ⌄
References ⌄
- GMC MLA Content Map
- NICE Clinical Knowledge Summaries
- BMJ Best Practice
Further Resources
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