Congenital insensitivity to painis a congenital in which physical pain can’t be perceived. Signs and symptoms can include cuts, bruises, broken bones, and other health problems that may go unnoticed due to unawareness of pain. There may also be anosmia and temperature, as repeated infections and intellectual disability or problems sweating and little tear production. Congenital insensitivity to pain is caused by pathogenic variants (mutations) in several different genes. Signs and symptoms may vary depending on the altered gene.

  • SCN9A: Anosmia, Charcot’s joint, normal tear production, and normal corneal reflex.
  • NTRK1: Anhidrosis, tendency to have ulcers on the cornea of ​​the eye, mild intellectual disability, predisposition to infections by bacteria called Staphylococcus aureus, Charcot’s joint, and dry skin.
  • PRDM12: Insensitivity to pain, absent corneal reflex and poor tear production, normal sense of smell,  Staphylococcus aureus  infectionsno Charcot joints; some have difficulty with temperature regulation.
  • CLTCL1  (only one family reported): Severe non-progressive learning disability,  delayed myelination of the central nervous system.
  • NGF: Varied symptoms that may include anhidrosis, mild/moderate intellectual disability, Staphylococcus aureus infections and Charcot’s joints or impaired pain/temperature sensation and Charcot’s joints, normal intellect and normal sweating.
  • SCN11A: Delayed motor, mild muscle weakness, highly mobile joints, intestinal dysfunction with diarrhea, and itching.

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