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Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Riley-Day syndrome is an inherited disorder that affects the development and function of nerves throughout the body.
Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene from each parent to develop the condition.
This condition 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 a change (mutation) of the IKBKAP gene on chromosome 9. It is rare in the general population.