Synonyms: LQT8 | Long QT syndrome type 8 | Long QT syndrome-syndactyly syndrome
A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation congenital heart defects syndactyly facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Promoting disability awareness and inclusion through education and support services. They highlight rare and undiagnosed diseases and provide initiatives in schools, hospitals, and other organizations to create a more inclusive world. The organization was founded by a disabled Latina mother of a rare child with autism, with a focus on diversity and underrepresented communities.
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My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
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The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The TRND Network is dedicated to supporting patients and their loved ones by providing advocacy and support, advancing research, and creating collaboration between researchers and patients.
Timothy Syndrome Alliance
To improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders, including Timothy Syndrome and LongQT8, and to support the families and carers of those diagnosed.
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