DOORS syndrome

Disease Overview

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.

Synonyms

• DOORS
• DOORS syndrome
• Digitorenocerebral syndrome
• Eronen syndrome
• autosomal recessive deafness-onychodystrophy syndrome
• brachydactyly due to absence of distal phalanges
• deafness onychodystrophy osteodystrophy and intellectual disability syndrome
• deafness onychodystrophy osteodystrophy and mental retardation syndrome
• deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome
• deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
• deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
• deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
• deafness-onychoosteodystrophy-intellectual disability syndrome
• door syndrome
• drc syndrome