Doors Syndrome: Case Report

Dua Cebeci1, Didem Rıfkı2

  • 1Department of Dermatology, Famagusta State Hospital, Famagusta, Cyprus.

Insights

DOORS syndrome is a rare genetic disorder affecting the nervous system and metabolism. This case study highlights a patient diagnosed with DOORS syndrome, presenting with toe anonychia and other symptoms.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • DOORS syndrome is an autosomal recessive genetic neurometabolic disorder.
  • It affects both males and females equally.
  • TBC1D24 mutations are a significant cause of DOORS syndrome.

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