Osteopetrosis, also known as marble bone disease, is a rare genetic bone disorder that results in abnormally dense bones that are susceptible to fractures. It occurs when the body produces too much bone or doesn't break down and reabsorb old bone properly. People with Osteopetrosis have bones that are abnormally denser, harder and heavier than normal. The disorder can also cause other problems, such as hearing loss and other problems.
There are two types of osteopetrosis:
Inherited Osteopetrosis or congenital Osteopetrosis (present at birth). Congenital osteopetrosis is the more severe form of the disorder and is often fatal. Inherited osteopetrosis is more common and is caused by a mutation in one of several different genes.
Acquired Osteopetrosis (develops later in life). Acquired osteopetrosis is rare and can be caused by certain medical conditions, such as cancer or certain infections.
Osteopetrosis is a rare condition that affects both children & adults, affecting approximately one in every twenty thousand people. The exact prevalence is unknown, but it is estimated to occur in 1 in every 250,000 people.
The disorder can be mild, moderate, or severe. People with mild Osteopetrosis may not have any symptoms. Those with moderate or severe Osteopetrosis may experience the following symptoms:
Slow healing of fractures
Problems with tooth development
Osteopetrosis Causes and Inheritance
The disorder is caused by a mutation in a gene that is involved in bone development. In most cases, the disorder is inherited in an autosomal recessive pattern, which means both parents must carry a copy of the mutated gene for a child to be affected.
Other Names for Osteopetrosis
There are several other names for Osteopetrosis, including the ones mentioned below:
Marble bone disease
Treatment for Osteopetrosis
There is no cure for osteopetrosis, but its treatment can possibly help to improve its symptoms and prevent complications. Treatment may include medication, physical therapy, and even surgery in some of the most unfortunate cases.
Contact 1Health Medical Center for Osteopetrosis Symptoms
If you are experiencing symptoms of osteopetrosis, it is important to seek medical attention right away. Please don't hesitate to contact 1Health Medical Center; we have expert medical professionals experienced in diagnosing and treating this rare condition. Our team of experts will be able to provide you with the best medical service you need to get back on the road to good health.