Condition 101 About DOOR Syndrome

What is the definition of DOOR Syndrome?

Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound intellectual disability (represented by the "R"). In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.

What are the alternative names for DOOR Syndrome?

  • Digitorenocerebral syndrome
  • Autosomal recessive deafness-onychodystrophy syndrome
  • Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
  • Deafness-onychoosteodystrophy-intellectual disability syndrome
  • DOORS syndrome

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Clinical Trials For DOOR Syndrome

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