/DOORS syndrome

DOORS syndrome

Rare Disease

MONDO:0009079

Also Known As

DOORS syndromeautosomal recessive deafness-onychodystrophy syndromedeafness-onychodystrophy-osteodystrophy-intellectual disability syndromedeafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndromedeafness-onychoosteodystrophy-intellectual disability syndromedoor syndromeDOORSDigitorenocerebral syndromeEronen syndromebrachydactyly due to absence of distal phalangesdeafness onychodystrophy osteodystrophy and intellectual disability syndromedeafness onychodystrophy osteodystrophy and mental retardation syndromedeafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndromedeafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndromedrc syndrome

Definition

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.