Cri du Chat Syndrome
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
