Hereditary hearing loss

More than half of congenital or early childhood hearing disorders have a genetic basis. Many forms that occur later on (sometimes in adulthood) are also hereditary. There is an extremely pronounced genetic heterogeneity, i.e. pathogenic variants in many different genes can be causative. In 30% of affected children, the hearing impairment is present in the context of a syndrome, with additional symptoms often manifesting much later:

• Retinitis pigmentosa (Usher syndrome)
• Hypothyroidism (Pendred syndrome)
• Kidney dysfunction (Alport syndrome)
• Cardiac arrhythmias (Jervell, Lange-Nielsen and SANDD syndromes)

An early genetic diagnosis can differentiate between isolated and syndromic hearing disorders and thus has crucial importance for individual medical care (primarily audiological or interdisciplinary).