/Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome

Rare Disease

MONDO:0002441

Also Known As

Jervell Lange-Nielsen syndromeJervell and Lange Nielsen syndromeJervell and Lange-Nielson syndromeJervell-Lange Nielsen syndromelong QT interval-deafness syndromeCardioauditory syndrome of Jervell and Lange-NielsenJLNS1Jervell and Lange-Nielsen syndrome 1Jervell and Lange-Nielsen syndrome type 1Surdo-cardiac syndromedeafness, congenital, and functional heart diseaseprolonged QT interval in EKG and sudden death

Definition

An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.