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| Disease found: | DOORS Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Deafness (sensorineural hearing loss), onychodystrophy (nail malformation), osteodystrophy (bone malformation), intellectual disability, and seizures |
| Signs and Symptoms: | Sensorineural deafness, malformation of fingernails and toenails, long thumbs and/or great toes, triphalangeal thumb/great toe, permanent curving of fifth finger, intellectual disability ranging from mild to moderate, delays in developmental milestones and speech delays, seizures, wide nasal base, wide nasal bridge, gingival overgrowth, low set ears, coarse facial features |
| Diagnosis: | Children with these characteristic abnormalities should be tested for deafness. EEG to evaluate for seizures |
| Treatment: | Supportive |
| Clinical Management: | Seizure medications, audiologic evaluation or cochlear implants, symptomatic treatment |
| Referral: | 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: | None currently recruiting. |