Orphanet: Hereditary sensory and autonomic neuropathy type 8
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Hereditary sensory and autonomic neuropathy type 8

Disease definition

A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.

ORPHA:478664

Classification level: Disorder
  • Synonym(s):
    • HSAN8
    • Hereditary sensory and autonomic neuropathy type VIII
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G60.8
  • OMIM: 616488
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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