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familial dysautonomia

 

Definition: 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

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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