Timothy syndrom
Engelsk navn: Timothy syndrome
Engelske synonym: LQT8,Long QT syndrome type 8,Long QT syndrome-syndactyly syndrome
Definisjon
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
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
