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Deafness onychodystrophy osteodystrophy and mental retardation syndrome


Other Names for this Disease
  • DOOR syndrome
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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 mental (R)etardation, which is now referred to as intellectual disability. In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.[1]
Last updated: 11/3/2011

References

  1. DOOR syndrome. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/818/viewAbstract. Accessed 11/3/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Deafness onychodystrophy osteodystrophy and mental retardation syndrome. Click on the link to view a sample search on this topic.