Makindo Medical Notes

Related Subjects: | Osteoporosis | Autosomal Dominant | Autosomal Recessive | X Linked Recessive |Dementias |Chromosomal Defects |Turner's syndrome (Children) |Down's syndrome (Children) |Cri du Chat Syndrome

🐱 Cri du Chat syndrome (CdCS) is a rare genetic disorder caused by a deletion on the short arm of chromosome 5 (5p-). It is named for the distinctive high-pitched "cat-like" cry of affected infants. The syndrome leads to intellectual disability, developmental delay, and multiple congenital features.

🧬 Causes

• Deletion of the short arm of chromosome 5 (5p-).
• Most cases occur sporadically, though 10–15% may be inherited (parent with balanced translocation).
• Severity depends on size of deletion.

🩺 Clinical Features

• 🐱 High-pitched, cat-like cry in infancy (due to laryngeal and neurological abnormalities).
• 🧠 Microcephaly, low birth weight, failure to thrive.
• 🙂 Facial dysmorphism: round face, hypertelorism, epicanthal folds, micrognathia.
• 🧠 Severe intellectual disability & profound speech delay.
• 🚶 Motor and growth retardation → delayed milestones.
• ❤️ Congenital heart defects in ~30% of cases.
• 🦴 Orthopaedic problems: scoliosis, hip dislocation in some.

🔍 Diagnosis

• Clinical suspicion based on classic cry + dysmorphic features.
• Karyotyping or FISH testing confirms 5p deletion.
• Array CGH provides detailed deletion mapping.
• Genetic counseling important for family risk assessment.

🛠️ Management

• Multidisciplinary team: paediatrics, neurology, cardiology, genetics.
• 💬 Speech therapy → essential as speech is most severely affected.
• 🧑‍🏫 Educational support adapted to abilities.
• ⚕️ Medical interventions: cardiac surgery, orthopaedic management as needed.
• 🤝 Family support & counseling for prognosis and future pregnancies.

📊 Prognosis

• Dependent on deletion size and severity of anomalies.
• Most individuals have lifelong developmental disability.
• Life expectancy can be normal if major organ defects are managed.
• Early intervention → improved independence and social interaction.

🛡️ Prevention

• Genetic counseling for families with history of CdCS.
• Prenatal testing (CVS, amniocentesis with microarray) available in high-risk cases.

📚 References

• Genetics Home Reference
• NCBI Bookshelf