Timothy syndrom

Engelsk navn: Timothy syndrome
Engelske synonym: 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.

Fra Orphanet

ORPHA: 65283
Klassifiseringsnivå: Disorder
ICD-10: I49.8

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