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2 min read

Last Updated: 8 August 2024

Char Syndrome

Char syndrome is a rare genetic disorder characterised by heart defects, facial abnormalities, and hand malformations. Caused by TFAP2B gene mutations, Char syndrome typically manifests with features like patent ductus arteriosus, flat midface, and short thumbs. Diagnosis often involves genetic testing, and treatment is symptom-specific.

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