Important

It is possible that the main title of the report Korsakoff's Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name (s) and disorder subdivision (s) covered by this report.

Synonyms

• Deafness, Onychodystrophy, Osteodystrophy,and Mental Retardation
• DOOR(S) Syndrome

Disorder Subdivisions

• None

General Discussion

DOOR syndrome is a rare genetic disorder that may be recognized shortly after birth. "DOOR," an acronym for characteristic abnormalities associated with the syndrome, stands for (D)eafness due to a defect of the inner ear or auditory nerve (sensorineural hearing loss); (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation. In addition, in some cases, affected infants may have sudden episodes of uncontrolled electrical activity in the brain (seizures). Distinctive nail abnormalities may include underdeveloped, misshapen, or absent fingernails and/or toenails, while characteristic bone malformations may consist of an extra small bone in the thumbs and/or great toes (triphalangy) and/or underdevelopment (hypoplasia) of bones in other fingers and/or toes. DOOR syndrome is inherited as an autosomal recessive trait.