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