DOOR syndrome

Indian Pediatr. 2011 Jun;48(6):479-81. doi: 10.1007/s13312-011-0068-z.


DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. Seizures reported frequently in this condition are often refractory to treatment.

Publication types

  • Case Reports

MeSH terms

  • Epilepsies, Partial / diagnosis
  • Hearing Loss, Sensorineural / diagnosis*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Male
  • Nail Diseases / diagnosis*
  • Syndrome