Seizures, present in most individuals with DOORS syndrome, usually start in the first year of life. The motor and language skills were most delayed in two children where such details are available. The intellectual disability (previously referred to as mental retardation) can vary significantly in degree but is often severe.

A triphalangeal thumb is present in one third of affected individuals. Small or absent nails (onychodystrophy) and hypoplastic terminal phalanges (osteodystrophy) are noted in most individuals. The onychoosteodystrophy affects the hands and feet equally.

Some have benefited from cochlear implants.

The sensorineural hearing loss is often profound and prelingual. The five major features of DOORS syndrome are profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Surveillance: Neurology evaluations with EEGs depending on seizure frequency and/or progression of clinical manifestations yearly audiologic evaluation to assess for possible progression of hearing loss and/or the efficacy of hearing aids yearly dental evaluation.Īgents/circumstances to avoid: Excessive ambient noise, which may exacerbate hearing loss in heterozygotes for a TBC1D24 pathogenic variant that causes DFNA65.Įvaluation of relatives at risk: Molecular genetic testing for the familial TBC1D24 pathogenic variant(s) in older and younger sibs of a proband in order to identify as early as possible those who would benefit from early treatment of seizures and/or hearing loss. Treatment of manifestations: Hearing aids or cochlear implants as needed for hearing loss early educational intervention and physical, occupational, and speech therapy for developmental delay symptomatic pharmacologic management for seizures routine management of visual impairment and renal and cardiac anomalies.

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