Riley-Day syndrome

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Riley-Day syndrome

 [ri´le da´]
2. an autosomal recessive disease of childhood characterized by defective tear formation, skin blotching, emotional instability, motor incoordination, total absence of pain sensation, and hyporeflexia; seen almost exclusively in Ashkenazi Jews. Called also familial dysautonomia.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

fa·mil·i·al dys·au·to·no·mi·a

a congenital syndrome with specific disturbances of the nervous system and aberrations in autonomic nervous system function such as indifference to pain, diminished lacrimation, poor vasomotor homeostasis, motor incoordination, labile cardiovascular reactions, hyporeflexia, frequent attacks of bronchial pneumonia, hypersalivation with aspiration and difficulty in swallowing, hyperemesis, emotional instability, and an intolerance for anesthetics; autosomal recessive inheritance. Mapped to human chromosome 9q31-q33.
Synonym(s): Riley-Day syndrome
Farlex Partner Medical Dictionary © Farlex 2012

familial dysautonomia

An autosomal recessive disorder (OMIM:223900) characterised by failure to thrive and progressive degeneration of sensory, sympathetic and parasympathetic neurons. Affected individuals have decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises and gastrointestinal dysfunction. Most patients are progeny of endogamous Ashkenazi Jews (incidence, 1:3:600 live births).

Molecular pathology
Defects in IKBKAP, which encodes a putative scaffold protein and subunit of the RNA polymerase II elongator complex, cause familial dysautonomia.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


Richard Lawrence, U.S. pediatrician, 1905-1989.
Riley-Day syndrome - see under Riley, Conrad Milton


Conrad Milton, U.S. pediatrician, 1913–.
Riley-Day syndrome - a congenital syndrome, with specific disturbances of the nervous system and aberrations in autonomic nervous system function. Synonym(s): familial dysautonomia
Medical Eponyms © Farlex 2012