familial dysautonomia

(redirected from congenital autonomic dysfunction syndrome)
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dysautonomia

 [dis″aw-to-no´me-ah]
malfunction of the autonomic nervous system.
familial dysautonomia Riley-Day syndrome.
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

[MIM*223900]
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.

familial dysautonomia

Riley-Day syndrome Pediatric neurology An AR condition in Jews, which affects peripheral sensorimotor autonomic and CNS neurons Clinical FTT, episodic vomiting, URIs, autonomic dysfunction–skin blotching, lacrimation, temperature dysregulation, diaphoresis, HTN and postural hypotension, early death
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

fa·mil·i·al dys·au·to·no·mi·a

(FD) (fă-mil'ē-ăl dis'aw-tō-nō'mē-ă)
A congenital syndrome with 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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

familial dysautonomia

An AUTOSOMAL RECESSIVE neurological disease affecting mainly Ashkenazi Jews and featuring a marked disturbance of the function of the autonomic nervous system. This results in feeding difficulties, excessive sweating, absence of tears, indifference to pain, reduced corneal sensitivity, emotional lability and red blotching of the skin.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Riley,

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

fa·mil·i·al dys·au·to·no·mi·a

(fă-mil'ē-ăl dis'aw-tō-nō'mē-ă) [MIM*223900]
Congenital syndrome with specific disturbances of nervous system and aberrations in autonomic nervous system function, such as indifference to pain, diminished lacrimation, and poor vasomotor homeostasis.
Medical Dictionary for the Dental Professions © Farlex 2012
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