Timothy syndrome
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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Timothy syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Clinical Trials
For a list of clinical trials in this disease area, please click here.