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Riley-Day syndrome

Last revised by Daniel J Bell on 3 Dec 2021

Riley-Day syndrome, also known as familial dysautonomia, is a rare neurodevelopmental genetic autosomal recessive disorder that primarily affects the autonomic nervous system 1,9.

Familial dysautonomia is more common in Ashkenazi Jews 1.

Recurrent aspiration pneumonia secondary to dysphagia is the main cause of recurrent hospital admissions and mortality 2,9.

Other presenting features include 3,5,7,10:

In familial dysautonomia, a decreased amount of dopamine beta-hydroxylase in the blood is noted leading to recurrent vomiting. Moreover, two mutations of chromosome 9 have been identified, primarily in the IKBKAP gene 6. There is also a decreased number of unmyelinated nerve fibers that is thought to cause a sensory neuropathy 5.

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