What is Timothy Syndrome? | Timothy Syndrome Alliance скачать в хорошем качестве

What is Timothy Syndrome? | Timothy Syndrome Alliance

🎥 What is Timothy Syndrome? | Timothy Syndrome Alliance Timothy Syndrome is one of the rarest and most complex genetic conditions, affecting the heart, brain, and other organs. Caused by a mutation in the CACNA1C gene, Timothy Syndrome can lead to Long QT Syndrome, developmental delays, immune system challenges, and physical differences such as fused fingers or toes. In this video, the Timothy Syndrome Alliance explains the basics of this ultra-rare condition—what causes it, how it affects the body, and why early diagnosis and support for families is so important. Key topics include: 🧬 What is Timothy Syndrome? 🧬 Signs and symptoms to watch for 🧬 How it is diagnosed and managed 🧬 Why genetic testing matters 🧬 Where to find support and community 💛 Learn more at timothysyndrome.org. #TimothySyndrome #RareDisease #LongQTSyndrome #GeneticConditions #CACNA1C #SADS #RareButStrong #TimothySyndromeAlliance #CongenitalHeartDefect #NeurodevelopmentalDisorders #GeneticAwareness