Otodental syndrome

Otodental syndrome (also known as otodental dysplasia or globodontia) is a rare genetic disorder characterized by the combination of dental abnormalities and sensorineural hearing loss. The condition primarily affects the teeth and the inner ear. The hallmark dental feature is globodontia, in which the canine and molar teeth (particularly the premolars and molars) are abnormally large, bulbous, and globe-shaped. The dental pulp chambers are often enlarged (taurodontism may also be present), and there may be absence of premolars or other dental anomalies. The enamel and dentin may show structural abnormalities. The sensorineural hearing loss associated with otodental syndrome typically affects high frequencies and can range from mild to severe. It is usually bilateral and may be progressive in some individuals. The hearing loss is thought to result from cochlear abnormalities. Ocular colobomas (defects in eye structures such as the iris, retina, or lens) have been reported in some families, leading some authors to use the term 'oculo-oto-dental syndrome' when eye findings are present. Otodental syndrome follows an autosomal dominant inheritance pattern with variable expressivity, meaning that affected individuals within the same family may show different combinations and severity of features. The condition has been linked to deletions or mutations involving the FGF3 gene on chromosome 11q13.3 in some families. There is no cure for otodental syndrome. Management is multidisciplinary and includes dental treatment (restorations, extractions, prosthetic rehabilitation) to address the abnormal tooth morphology, hearing aids or other auditory devices for sensorineural hearing loss, and ophthalmologic monitoring when eye involvement is present. Early dental and audiological evaluation is recommended for affected individuals and at-risk family members.

Common questions about Otodental syndrome