Char syndrome

Char syndrome is a rare condition that is primarily defined by three key features: patent ductus arteriosus (PDA), differences in facial structure, and hand anomalies. These aspects mean that people with this condition may have a heart issue where a blood vessel fails to close properly, unique facial characteristics, and abnormalities in their fifth digits or hand formation. This overview is based on trusted sources that describe the syndrome’s core clinical presentation. The condition has been referenced in multiple resources, highlighting its genetic component and distinct triad of physical signs. Information about the syndrome continues to be refined as more insights arise from ongoing research.

People with Char syndrome typically present with patent ductus arteriosus, a heart condition where an opening between blood vessels remains open after birth. In addition, there are distinctive facial features and hand anomalies, such as abnormalities in the fifth digits. These symptoms are important in identifying the syndrome.

Char syndrome is linked to changes in the TFAP2B gene. This gene plays a role in development, and mutations in this gene are associated with the features of the syndrome. However, the full details of the genetic and environmental contributions to the condition are still being studied.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.