Assel

Assel, also known as Assel's disease or Assel syndrome, is a rare genetic disorder characterized by the absence of the lower limbs. It is caused by mutations in the GLI3 gene, which is responsible for the development of the limbs. The condition is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one mutated copy of the GLI3 gene from a parent to develop the disorder.

Assel syndrome typically presents in infancy or early childhood, with the absence of the lower limbs being the most prominent feature. Other associated anomalies may include abnormalities of the spine, ribs, and internal organs. The severity of the condition can vary, with some individuals having only minor abnormalities, while others may have more significant deformities.

The diagnosis of Assel syndrome is usually made through genetic testing, which can identify mutations in the GLI3 gene. There is currently no cure for Assel syndrome, and treatment is primarily focused on managing the associated symptoms and complications. This may include physical therapy, orthopedic surgeries, and the use of assistive devices.

Assel syndrome is a rare condition, with an estimated prevalence of less than one in one million. It is important for healthcare providers to be aware of the condition and its associated features to ensure accurate diagnosis and appropriate management.