Riley–Day syndrome

Also known as: Familial dysautonomia

Hereditary sensory and autonomic neuropathy type III.

Medical specialty: Neurology
Subspecialty: Neurology / Neurodegenerative syndromes
Sex & age distribution: Male: affected; Female: affected; Children: yes, Ashkenazi Jewish
Gene(s) involved: ELP1

Etiology & mechanism

IKBKAP/ELP1 splicing defect.

Gene(s) involved (1)

ELP1

Symptoms & signs (5)

absent fungiform papillaeabsent tearsautonomic crisesinsensitivity to painrecurrent pneumonia

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