Conditions / Syndrome

PHARC syndrome

info ยท Syndrome

A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.

Signs and symptoms

  • Sensorineural hearing impairment
  • Demyelinating peripheral neuropathy
  • Cataract
  • Ataxia
  • Babinski sign
  • Achilles tendon contracture
  • Dysmetria
  • Distal amyotrophy
  • Nystagmus
  • Sensorimotor neuropathy

Also known as: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract