NORD gratefully acknowledges Phillip L. Pearl, MD, Chief of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Harvard Medical School, for assistance in the preparation of this report.
Synonyms of DOOR Syndrome
deafness, onychodystrophy, osteodystrophy, and mental retardation
- DOOR(S) syndrome
Subdivisions of DOOR Syndrome
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.
DOOR Syndrome Resources
[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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