Andersen Disease

Andersen's disease (named after D. N. Andersen, 1901-1964, American pathologist) is a rare hereditary disease of connective tissue. It is characterized by abnormalities in skeletal development and disorders of the cardiovascular and respiratory systems.

Typical features of Andersen's disease are short limbs, especially the forearms and metacarpals; chest deformities; heart and blood vessel defects; frequent bone fractures.

The cause of the disease is a mutation in the COL2A1 gene, leading to disruption of the synthesis of type II collagen, the main protein of cartilage tissue.

The diagnosis is made based on the clinical picture, skeletal radiography and molecular genetic research.

Treatment is mainly symptomatic and includes orthopedic surgery and correction of cardiovascular disorders. The prognosis is generally unfavorable due to its progressive course.