Otodental syndrome

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Otodental Syndrome

Otodental syndrome, also known as Otodental dysplasia or Globodontia, is a rare genetic disorder characterized by abnormalities in the development of the teeth and the inner ear.

Pronunciation

Otodental syndrome is pronounced as oto-den-tal sin-drome.

Etymology

The term "Otodental" is derived from the Greek words "oto" meaning ear and "dental" meaning teeth, referring to the two main areas affected by this syndrome.

Definition

Otodental syndrome is a condition that primarily affects the development of the teeth and the inner ear. Individuals with this syndrome have teeth that are larger than normal (megadontia), particularly the canines and molars. The affected teeth also have a characteristic appearance described as globodontia because they are globe-shaped. In addition to dental abnormalities, individuals with otodental syndrome often have hearing loss caused by abnormalities in the inner ear (sensorineural hearing loss).

Symptoms

The most common symptoms of Otodental syndrome include:

  • Megadontia: This is a condition where the teeth, particularly the canines and molars, are larger than normal.
  • Globodontia: This is a condition where the teeth are globe-shaped.
  • Sensorineural hearing loss: This is a type of hearing loss that occurs due to abnormalities in the inner ear.

Causes

Otodental syndrome is caused by mutations in the FAM20A gene. This gene provides instructions for making a protein that is involved in the development of teeth and the inner ear.

Diagnosis

Diagnosis of Otodental syndrome is based on a clinical examination of the teeth and hearing tests. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Otodental syndrome is symptomatic and supportive. It may include dental care to manage the abnormal teeth and hearing aids to manage the hearing loss.

Related Terms

External links

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