DOOR syndrome

Disease Overview

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.[4613]

Synonyms

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