Medical EditorDr. Nicholas Bush MBBS BSc (Hons)
2 min read
Last Updated: 8 August 2024
Char Syndrome
Medical EditorDr. Nicholas Bush MBBS BSc (Hons)
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.
Trusted Resources

National Institute of Health (NIH)
Char Syndrome