Learning Objective: By the end of this session, learners will be able to describe the genetic cause, key clinical features, and associated anomalies of Cri-du-chat syndrome.
Overview
- Genetic Cause: Congenital deletion on the short arm of chromosome 5 (5p−).
- Karyotype: 46, XX or 46, XY with 5p deletion.
- Mnemonic: “I cry when I am Very SaD”
- V: VSD (ventricular septal defect)
- S: Severe intellectual disability
- D: Distinctive high-pitched cry
Clinical Features
| Feature | Description / Mnemonic |
|---|---|
| Cry | High-pitched, “cat-like” cry in infancy |
| Face | Microcephaly, round face, epicanthal folds, broad nasal bridge |
| Growth | Low birth weight, failure to thrive |
| Heart | Congenital heart defects, most commonly VSD |
| Development | Moderate-to-severe intellectual disability, delayed milestones |
Diagnosis
- Clinical recognition of high-pitched cry and facial features
- Cytogenetic analysis confirms 5p deletion (karyotype or FISH)
Prognosis
- Most patients survive into adulthood.
- Intellectual disability persists, but physical health is usually manageable with supportive care.
