Primary care
Recommendation 1
Seizure medications, audiologic evaluation or cochlear implants, symptomatic treatment
DOORS Syndrome
Not yet reviewedThis 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
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Supportive
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
Clinical Trials
Sources
No data available
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