Riley-Day syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Chromosomes and DNA

Overview

Symptoms

Treatment

Prevention

Riley-Day syndrome

Definition:

Riley-Day syndrome is an inherited disorder that affects nerve function throughout the body. Symptoms are present at birth and grow worse over time.

Alternative Names:

Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III

Causes, incidence, and risk factors:

Riley-Day syndrome is inherited as an autosomal recessive trait, which means that a person must inherit a copy of the malfunctioning gene from each parent in order to develop the condition.

It is seen most often in people of Eastern European Jewish ancestry (Ashkenazi Jews), where the incidence is 1 in 3,700. The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is rare in the general population.

Review Date: 12/21/2004
Reviewed By: Celeste Krauss, M.D., Board Certified Clinical Genetics, Clinical Cytogenetics and Pediatrics. Founding Fellow, American College of Medical Genetics. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.