Hearing loss is the most common birth defect globally, with estimates of one in a thousand children being affected. Approximately 70% of deafness cases are non-syndromic, that is, not in association with any other symptoms. Out of these, around 85% of the cases are due to the autosomal recessive form of the disease, also known as DFNB. Although the clinical features of DFNB are quite homogenous with respect to their prelingual onset and the severity, genetically, it is very heterogeneous, with few dozens of loci having been implicated.
Treatment involves hearing amplification of any residual hearing present in the patient. Since most cases of DFNB are due to cochlear defects, surgery for cochlear implantation is also considered.