Albers Schoenberg Disease, also known as osteopetrosis, is a rare genetic disorder that affects the skeletal system and bone development. It is characterized by an abnormal increase in bone density, leading to the thickening and hardening of bones. This condition is named after two renowned physicians, Dr. Hermann Albers-Schönberg and Dr. Bernard Schoenberg, who first described the disease in the early 20th century.
Individuals with Albers Schoenberg Disease typically present with various symptoms, such as frequent fractures, stunted growth, dental problems, and anemia. The excessive bone mass may also exert pressure on the nerves, resulting in impaired hearing, vision, and breathing difficulties. Additionally, individuals with this condition may experience an increased susceptibility to infections due to the abnormal bone marrow function, which affects the production of immune cells.
Albers Schoenberg Disease is an inherited disorder caused by mutations in specific genes that regulate bone remodeling and metabolism. Autosomal recessive inheritance is the most common pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. However, in rare cases, an autosomal dominant inheritance pattern has also been reported, where only one copy of the mutated gene is needed.
Currently, there is no cure for Albers Schoenberg Disease. Treatment mainly focuses on managing the symptoms and complications associated with the disease, such as pain relief, surgical intervention for fractures, and supportive care for anemia and infections. Genetic counseling is crucial for individuals with a family history of the disease to understand the risks of inheritance and make informed decisions regarding family planning.
