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What is Cri du Chat Syndrome Overview about?

Cri du Chat syndrome, also known as 5p- syndrome, is a rare genetic condition caused by a chromosomal deletion on the short arm of chromosome 5, affecting the CTNND2 gene, which is important for brain development. Symptoms include a distinct high-pitched cry resembling a cat, facial abnormalities, low birth weight, and developmental delays. While there is no cure, treatment focuses on managing symptoms through therapies and surgeries to improve quality of life.

Author

a23-1230-456

Language

EN