Cri-du-chat Syndrome

Overview

Cri-du-chat syndrome is a rare genetic disorder. It is caused by a deletion on chromosome 5. It is also called “Cat’s Cry Syndrome.” It was first described in 1963 by Dr. Jérôme Lejeune. It affects about 1 in 20,000–50,000 births.

Key Symptoms

• High-pitched cry like a cat in infants
• Developmental delay
• Intellectual disability
• Distinct facial features (round face, small jaw, wide-set eyes)
• Feeding and swallowing difficulties
• Possible heart defects and organ problems

Causes

The disorder occurs due to missing genetic material on chromosome 5p. It usually happens randomly during cell division. In rare cases, it can be inherited from a parent with a balanced translocation.

Diagnosis

Doctors suspect the condition based on the cry and physical features. Chromosome testing confirms the diagnosis. Karyotyping shows the missing part of chromosome 5. FISH (Fluorescence in situ hybridization) and microarray analysis detect smaller deletions. Prenatal tests like amniocentesis can identify it before birth.

Treatment and Management

There is no cure. Treatment focuses on supportive care. Speech therapy, physical therapy, and occupational therapy help development. Medical care addresses heart or feeding problems. Early intervention improves quality of life.