There are certain diseases that have probably never heard of because they affect a small percentage of the population. However, it is good to be informed and know the most important data on them. Today we tell you what the osteopetrosis, what are its symptoms and treatment and who are the people who can have it.

The figures recorded on osteopetrosis indicate that 1 in 20 000 adults can have this disease. However in children is stranger, but can be lethal: 1 between 100,000 and 500,000. In adults it is a milder type of osteopetrosis and can be between 20 and 40 years old and rarely decreases life expectancy. Not so in the little ones.


Here we tell you what you have to know about this strange disease that affects children and adults.

Features osteopetrosis

Osteopetrosis is a congenital disorder in which bone structure throughout the body becomes progressively dense and brittle. Is the result of an imbalance between bone formation and destruction? Both processes are necessary for normal bone development.

There are three types of osteopetrosis:

• Child or malignant osteopetrosis: It is the most severe type. Its onset is in early childhood and is characterized by severe failure of the bone marrow.
• Benign or adult Ostepetrosis: It comes much later in young adults. In these cases the marrow failure is not as severe and there is greater exposure to fractures.
• Intermediate osteopetrosis: It is less severe than the infantile variety and usually affects children under 10 years.

The malignant infantile osteopetrosis is suffering the small Helenita, the Argentina girl who died after two operations. It is the most severe form of osteopetrosis, which in 30% of cases can lead to death within the first 10 years of life. The disease begins in early fetal life or during childhood. About 50% of cases are due to genetic mutations.

Perhaps you might be interested Death Helenita


In cases of infantile osteopetrosis, these are often some of the symptoms:

• Anemia and often complete marrow failure.
• Frequent infections: the suffering it the number of white blood cells is reduced, which may promote the development of infections.
• No rash or improper eruption of teeth from the gums.
• Increased pressure inside the skull.
• Development and insufficient growth.
• Delayed psychomotor development.
• Blindness, deafness and other nerve problems inside the skull.


The prognosis of some patients with osteopetrosis child can change markedly after bone marrow transplantation. Patients with osteopetrosis adult rates have good long term survival.

Patients with this disease must adapt their lifestyle so that they are always forewarned of possible fractures. Good nutrition is vital to ensure normal growth and development of children affected. Bone marrow transplantation is the only treatment that has produced complete healing of severe infantile form of malignant osteopetrosis.

As we see osteopetrosis is a complex disease that affects a small number of people. However, be alert to symptoms, control us and always ask our doctor if they develop any alert is what can help prevent future illness.