Which feature is most characteristic of Cri-du-chat syndrome?

Which feature is most characteristic of Cri-du-chat syndrome?

• A. Macroglossia
• B. Hearing loss
• C. Cat-like cry due to laryngeal anomalies
• D. Short philtrum and epicanthal folds

Answer: (C)

The distinctive cat-like cry in infancy is the feature that defines cri-du-chat. This high-pitched cry results from laryngeal and central nervous system abnormalities caused by a deletion on the short arm of chromosome 5 (5p-). It appears early and is often accompanied by microcephaly and facial changes such as epicanthal folds, giving a characteristic look, but the cat-like cry is the most specific and recognizable clue. Other features listed can occur in various conditions and aren’t unique to cri-du-chat. Macroglossia points toward other syndromes like Beckwith-Wiedemann or some trisomies; hearing loss is non-specific; and short philtrum with epicanthal folds can appear in multiple genetic disorders. The cat-like cry remains the standout hallmark.

The distinctive cat-like cry in infancy is the feature that defines cri-du-chat. This high-pitched cry results from laryngeal and central nervous system abnormalities caused by a deletion on the short arm of chromosome 5 (5p-). It appears early and is often accompanied by microcephaly and facial changes such as epicanthal folds, giving a characteristic look, but the cat-like cry is the most specific and recognizable clue.

Other features listed can occur in various conditions and aren’t unique to cri-du-chat. Macroglossia points toward other syndromes like Beckwith-Wiedemann or some trisomies; hearing loss is non-specific; and short philtrum with epicanthal folds can appear in multiple genetic disorders. The cat-like cry remains the standout hallmark.