Cri du Chat Syndrome (5p Deletion)

⏱️ 30 mins read 📖 Genetics 🎯 MLA Relevance: High

Cri du Chat syndrome results from a deletion of the short arm of chromosome 5, characterised by a high-pitched cat-like cry, microcephaly and intellectual disability.

📌 Learning Objectives

Describe the underlying mechanism of Cri du Chat Syndrome (5p Deletion).
Identify the key clinical features and complications of Cri du Chat Syndrome (5p Deletion).
Outline the appropriate investigations and management of Cri du Chat Syndrome (5p Deletion).
Discuss the implications for patients and families of Cri du Chat Syndrome (5p Deletion).

📋 Overview

Features include a distinctive cry in infancy, microcephaly, round face with hypertelorism, cardiac defects and severe intellectual disability.

🔬 Basic Science

Features include a distinctive cry in infancy, microcephaly, round face with hypertelorism, cardiac defects and severe intellectual disability.

🏥 Clinical Relevance

Multidisciplinary support is required throughout life.

🧪 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.

cri du chat 5p deletion high-pitched cry

Cri du Chat is caused by deletion of the short arm of chromosome 5 (5p-).
Classic high-pitched cat-like cry in infancy.
Severe intellectual disability and microcephaly are typical.
Cardiac defects (VSD, PDA) occur in ~30%.
Karyotype confirms diagnosis; microarray defines breakpoints.

⭐ Exam Pearls ⌄

⭐ High Yield

Cri du Chat is caused by deletion of the short arm of chromosome 5 (5p-).

Classic high-pitched cat-like cry in infancy.

Severe intellectual disability and microcephaly are typical.

Cardiac defects (VSD, PDA) occur in ~30%.

Karyotype confirms diagnosis; microarray defines breakpoints.

💡 Clinical Pearl

Cri Du Chat: Multidisciplinary support is required throughout life.

⚠️ Exam Tip — Common Mistakes

Confusing the mechanism of Cri du Chat Syndrome (5p Deletion) with related conditions.

Missing classic clinical features of Cri du Chat Syndrome (5p Deletion) in SBA stems.

Failing to consider Cri du Chat Syndrome (5p Deletion) in the differential diagnosis.

🔑 Key Facts ⌄

Cri du Chat is caused by deletion of the short arm of chromosome 5 (5p-).

Classic high-pitched cat-like cry in infancy.

Severe intellectual disability and microcephaly are typical.

Cardiac defects (VSD, PDA) occur in ~30%.

Karyotype confirms diagnosis; microarray defines breakpoints.

🔗 Related Topics ⌄

📚 References ⌄

GMC MLA Content Map
NICE Clinical Knowledge Summaries
BMJ Best Practice

Further Resources

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