Borestenger

Borestenger, also known as Borestenger's disease, is a rare genetic disorder characterized by the absence of the lower jaw and teeth. It is caused by mutations in the EDA2R gene, which is involved in the development of the jaw and teeth. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the gene, one from each parent, to be affected.

Borestenger's disease is typically diagnosed in infancy or early childhood. The absence of the lower jaw can lead to various complications, including difficulty with eating, speaking, and breathing. Additionally, the lack of teeth can result in malocclusion, or misalignment of the upper and lower teeth, which can further exacerbate these issues.

Treatment for Borestenger's disease is primarily focused on managing the symptoms and improving the quality of life for affected individuals. This may include orthodontic treatment to correct malocclusion, speech therapy to improve communication, and dietary modifications to facilitate eating. In some cases, surgical interventions may be necessary to address breathing difficulties or other complications.

The prognosis for individuals with Borestenger's disease varies depending on the severity of the condition and the effectiveness of treatment. With proper management, many individuals with the condition can lead relatively normal lives, although they may require ongoing medical care and support.