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Timothy Syndrome

Timothy Syndrome is a rare genetic disorder caused by mutations in the CACNA1C gene, which affects how calcium channels function in the heart and other tissues. This can lead to serious heart problems, developmental delays, and other health issues. People with Timothy Syndrome may experience irregular heartbeats (arrhythmias) and other cardiac complications, as well as features like autism and skeletal abnormalities. The condition is usually diagnosed in childhood and requires ongoing medical care to manage symptoms and monitor heart health. While there is no cure, treatments can help improve quality of life for those affected.

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    Timothy syndrome is a rare genetic condition caused by a mutation in the CACNA1C gene, which affects the way heart cells function. This condition often leads to serious heart problems, including arrhythmias (irregular heartbeats) and can cause developmental delays and features similar to autism. Individuals with Timothy syndrome may also have physical abnormalities, such as webbed fingers and toes. Due to its impact on heart health, timely diagnosis and management are crucial. Treatment usually involves addressing cardiac issues and supporting developmental needs. Overall, Timothy syndrome highlights the connection between genetics and complex health challenges.