DOORS syndrome

What is DOORS syndrome?

A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.

Other condition names

  • Autosomal recessive deafness-onychodystrophy syndrome
  • Autosomal recessive hearing loss-onychodystrophy syndrome
  • DOOR syndrome
  • Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
  • Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
  • Deafness-onychoosteodystrophy-intellectual disability syndrome
  • Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
  • Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
  • Hearing loss-onychoosteodystrophy-intellectual disability syndrome

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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