Genetic syndromes involving hearing

OBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by hundreds of genes and hereditary hearing impairment may be caused by a large variety of genetic mutations in different genes. Approximately 150 loci for monogenic syndromic and non-syndromic hearing impairment (HI) disorders have been mapped to the human genome. The identification of these genes and functional analysis of the proteins they encode, are paving the way towards a better understanding of the physiology and pathophysiology of the auditory system. To date, approximately 50 causative genes have been identified. METHODS: The clinical and neuroradioldical findings of syndromal hearing impairment are analysed. RESULTS: This paper presents an updated report on genetic syndromes in which a hearing impairment is involved, with a particular attention to the ones associated with external ear and craniofacial malformations. CONCLUSIONS: Concepts in human genetics are rapidly evolving together with technologies. The concept itself of gene is changing. A genetic diagnosis of syndromal hearing impairment has many practical consequences: it can implies specific prognosis, specific management, specific recurrence risk in relatives and, if the diagnosis is confirmed at the molecular level, possibility of a specific early prenatal diagnosis for severe syndromes. It is important to highlight the necessity that the pediatric otolaryngologist must have a close collaboration with a clinical geneticist and a neuroradiologist.