Jervell and Lange-Nielsen syndrome

MONDO:0002441

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.

Also known as: Jervell Lange-Nielsen syndrome, Jervell and Lange Nielsen syndrome, long QT interval-deafness syndrome, Cardioauditory syndrome of Jervell and Lange-Nielsen, JLNS1, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome type 1, Surdo-cardiac syndrome

2 clinical trials for this condition and its sub-types.

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Sub-types

Jervell and Lange-Nielsen syndrome 1 (1) Jervell and Lange-Nielsen syndrome 2 (1)

Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Long QT syndrome (18) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0) Familial long QT syndrome (0)

Not yet finished but already full! 1 Completed 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Jervell and Lange-Nielsen syndrome

Sub-types

Broader categories

Newborn screening study aims to catch rare diseases at birth