DOORS Syndrome

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Deafness (sensorineural hearing loss), onychodystrophy (nail malformation), osteodystrophy (bone malformation), intellectual disability, and seizures

Common symptoms

Sensorineural deafnessmalformation of fingernails and toenailslong thumbs and/or great toestriphalangeal thumb/great toepermanent curving of fifth fingerintellectual disability ranging from mild to moderatedelays in developmental milestones and speech delaysseizureswide nasal basewide nasal bridgegingival overgrowthlow set earscoarse facial features

WHEN TO SUSPECT

  • Recommendation 1

    Children with these characteristic abnormalities should be tested for deafness. EEG to evaluate for seizures

HOW TO TEST

  • Recommendation 1

    Children with these characteristic abnormalities should be tested for deafness. EEG to evaluate for seizures

TREATMENT

  • Recommendation 1

    Supportive

PRIMARY CARE

  • Recommendation 1

    Seizure medications, audiologic evaluation or cochlear implants, symptomatic treatment

FURTHER SUPPORT

  • Recommendation 1

    Neurologists, audiologists, OT, PT, and speech therapy. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    None currently recruiting.

Sources

No data available

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