Conductive deafness malformed external ear
Overview
Conductive deafness - malformed external ear: A rare disorder characterized by hearing loss and external ear malformations.
Symptoms
The list of signs and symptoms mentioned in various sources for Conductive deafness - malformed external ear includes the 4 symptoms listed below: * Congenital conductive deafness * Small ears * Malformed ears * Low-set ears
Causes
* Infections –CMV: Most common intrauterine infection causing hearing loss –Bacterial meningitis –Congenital rubella: Cataracts, cardiovascular anomalies, retinitis, mental retardation –Congenital syphilis –Toxoplasmosis –Lyme disease * Metabolic –Hyperbilirubinemia (kernicterus): Consider phototherapy or exchange transfusion if serum bilirubin >20 mg/dL in newborn –Hypercholesterolemia o Ototoxic medications –Aminoglycoside, gentamicin often needed for perinatal sepsis; >5 days risks hearing loss * Temporal bone anomaly –Middle ear anomaly (results in conductive hearing loss) –Perilymphatic fistula –Dilated vestibular aqueduct (±Mondini deformity) –Michel cochlear aplasia –Scheibe aplasia: Membranous aplasia; bony labyrinth normal o Nonsyndromic hereditary congenital deafness (connexin 26 gene mutation is responsible for half of all genetic deafness) o Syndromic hereditary congenital deafness –Waardenburg: Telecanthus, confluent eyebrow, colored irides, white forlock –Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia, vestibular dysfunction –Alport: Progressive nephritis and hearing loss –Apert (acrocephalosyndactyly): Craniofacial dysostosis –Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla –Jervell and Lange-Neilsen: Heart disease (prolonged QT interval) –Pendred: Euthyroid goiter –Oto-palatal-digital: Cleft palate, stubby clubbed digits –Congential aural atresia
Diagnosis
These home medical tests may be relevant to Conductive deafness - malformed external ear: * Concentration -- Home Testing * ADHD -- Home Testing * Ear Infections: Home Testing: o Home Ear Infection Tests o Home Ear Tests o Home Hearing Tests * Home Andropause Tests * Prostate Health: Home Testing: * Home Prostate Tests * Home PSA Antigen Tests * Home Testosterone Tests * Mental Health: Home Testing: * Home Emotional Stress Tests
Treatment
* Identify children with hearing loss early * Treat medically treatable cause, if any –Syphilis (steroids and penicillin), Lyme disease, toxoplasmosis, hypercholesterolemia * Intravenous gancyclovir for congenital CMV * Habilitate by age 6 months if possible –Amplification –Bone-anchored hearing aids –Tympanostomy tube placement –Middle ear reconstruction –Perilymphatic fistula closure –Cochlear implant (after age 12 months) * Periodic follow-up necessary –Ensure auditory habilitation is working –Check for hearing loss progression