Cri du Chat Syndrome: Equal Gender Prevalence, Chromosome 5p Deletion

Cri du chat syndrome (5p- syndrome) affects males and females equally.

Genetics

• Deletion on short arm of chromosome 5 (5p15.2–5p15.3 critical region).
• ~80–90% de novo; 10–15% parental translocation.
• Incidence: ~1 in 20,000–50,000 live births.

Key Features

• High-pitched, cat-like cry (laryngeal hypoplasia)
• Microcephaly, round face, hypertelorism, low-set ears
• Intellectual disability, developmental delay
• Hypotonia, feeding difficulties
• Cardiac, renal, skeletal anomalies possible

Management

• Early intervention (PT, OT, speech)
• Multidisciplinary surveillance (cardiology, nephrology, orthopedics)
• Genetic counseling for family

No sex predilection; phenotype severity correlates with deletion size.