The Rare Haim-Munk Syndrome (HMS) found in a Woman with Dravidian Descent

Gene causing rare disease found in south Indian woman

• A woman with Dravidian descent has displayed the Haim-Munk Syndrome (HMS) which is mostly found among specific Jewish populations.
• Found first time among Dravidian population.
• It is the same genetic mutation (in Cathepsin C gene) that has caused it.
• Symptoms include :
  • had recurrent skin infections
  • periodontitis (inflammation that damages the gum & soft bone that support teeth)
  • loss of teeth
  • nails resembling claws.

Exams Perspective:

1. Haim-Munk Syndrome (HMS)