Toblera Syndrome

Tobler syndrome (TBS) is a rare inherited disease that is characterized by impaired development of cartilage and bones. It is named after the Swiss pediatrician Ludwig Tobler, who first described the syndrome in 1911.

Symptoms of TBS can appear at any age, but most often appear in children between 4 and 10 years of age. These include:

– Deformation of the skull and face, including shortening of the nose, deformation of the jaw, curvature of the upper jaw and ears.
– Impaired bone development, including short bones in the arms and legs, shortened fingers, curvature of the spine, etc.
– Disorders of the development of cartilage tissue, such as short larynxes, curved tracheas and bronchi, shortened bronchi, etc.

Treatment for TBS depends on the severity of symptoms and may include surgery, physical therapy, and medication. In some cases, cartilage or bone grafting may be required.

The causes of TBS are unknown, but it is thought to be related to mutations in genes that control the development of cartilage and bone in the body. However, the exact cause of the disease remains unknown.