Orphanet: Familial dysautonomia

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Familial dysautonomia

Disease definition

A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.


Classification level: Disorder
  • Synonym(s):
    • HSAN3
    • Hereditary sensory and autonomic neuropathy type 3
    • Hereditary sensory and autonomic neuropathy type III
    • Riley-Day syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: G90.1
  • OMIM: 223900
  • UMLS: C0013364
  • MeSH: D004402
  • GARD: 7581
  • MedDRA: 10039179

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.