DOORS syndrome is often caused by changes in both copies of TBC1D24, a gene involved in nerve cell signalling and membrane trafficking, and is then inherited in an autosomal recessive way. A change in one copy of ATP6V1B2 can also cause DOORS syndrome, which may lie on a spectrum with the related DDOD syndrome.
Signs and symptoms
Profound sensorineural hearing loss and small or absent nails with short end bones of the fingers and toes are characteristic. Developmental delay or intellectual disability and seizures, which can be difficult to control, are common. Less often there is a small head or other skeletal differences.
What a diagnosis changes
Care includes hearing support such as cochlear implants, seizure treatment with neurological follow-up, and developmental and educational support. Genetic counselling is recommended: for TBC1D24, parents are usually carriers with a 1 in 4 recurrence risk, and for ATP6V1B2, parental testing helps clarify risk.
Also known as
autosomal recessive deafness-onychodystrophy syndrome; 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; Digitorenocerebral syndrome; DOORS
