Jervell and Lange-Nielsen Syndrome

Danielle Mercer1, Fern Tsien2, and Barbara Gordon-Wendt1

1 Department of Communication Disorders, LSUHSC School of Allied Health Professions
2 Department of Genetics, LSUHSC School of Medicine


Jervell and Lange-Nielsen syndrome is a rare disorder that affects 1.6 to 6 individuals per 1,000,000.  It is much more common in Denmark, affecting about 1 in 200,000 individuals.  It is characterized by deafness at birth, along with heart defects.  A prominent heart defect found with this syndrome is long QT syndrome.  Long QT syndrome is a heart condition causing heart muscle to take longer than it should to recharge between beats.  Heart arrhythmias and fainting spells are also seen with this syndrome.  Individuals who are born deaf should be screened for this disorder because approximately 3 per 1,000 people born deaf are affected with Jervell and Lange-Nielsen syndrome.  Medications or surgery may lower or prevent the risk of sudden death that may occur because of the heart defects.  The inheritance pattern for Jervell and Lange-Nielsen syndrome is autosomal recessive.

Jervell and Lange-Neilsen signs and symptoms:

  • Profound sensorinerual hearing loss, present at birth
  • Heart arrhythmia
  • Long QT syndrome
  • Fainting spells

For more information on Jervell and Lange-Nielsen syndrome, visit the following links:

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