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DOOR Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Phillip L. Pearl, MD, Division Chief, Child Neurology, Children's National Medical Center; Professor of Pediatrics and Neurology, The George Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of DOOR Syndrome

  • deafness, onychodystrophy, osteodystrophy, and mental retardation
  • DOOR(S) syndrome

Disorder Subdivisions

  • No subdivisions found.

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.

Organizations related to DOOR Syndrome

[Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., deafness, seizures, etc.).]

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