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What is the prevalence of Osteopetrosis?

How many people does Osteopetrosis affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Osteopetrosis

Osteopetrosis is a rare genetic disorder characterized by abnormally dense bones, resulting from impaired bone resorption. It affects approximately 1 in every 100,000 to 500,000 individuals worldwide. The prevalence of this condition varies among different populations and ethnicities. Osteopetrosis can manifest in different forms, ranging from mild to severe, with varying symptoms and age of onset. Early diagnosis and appropriate management are crucial for individuals affected by this condition to prevent complications and improve their quality of life.



Osteopetrosis is a rare genetic disorder characterized by abnormal bone development, resulting in increased bone density and brittleness. It is estimated that the prevalence of osteopetrosis is approximately 1 in 20,000 to 1 in 250,000 individuals worldwide. The condition can affect both males and females of all ethnic backgrounds.



Osteopetrosis can manifest in different forms, ranging from mild to severe, with varying age of onset. The severe infantile form, also known as malignant osteopetrosis, is the most severe and life-threatening. It typically presents in early infancy and can lead to complications such as bone marrow failure, vision and hearing impairment, and recurrent infections.



While osteopetrosis is considered a rare disorder, its prevalence may vary across different populations. Certain regions or communities may have a higher incidence due to genetic factors or consanguineous marriages. Genetic counseling and testing are crucial for families with a history of osteopetrosis to assess the risk of passing on the condition to future generations.



Early diagnosis and appropriate management are essential in improving the quality of life for individuals with osteopetrosis. Treatment options may include bone marrow transplantation, medications to manage symptoms, and surgical interventions to address complications.


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4 answers
I think it is 1 to 100,000 have it but it may very well have changed.

Posted Jul 26, 2017 by Chuck 2001
From https://rarediseases.org/rare-diseases/osteopetrosis/

Approximately eight to 40 children are born in the United States each year with the malignant infantile type of osteopetrosis. One in every 100,000 to 500,000 individuals is born with this form of osteopetrosis. Higher rates have been found in Denmark and Costa Rica. Males and females are affected in equal numbers.

The adult type of osteopetrosis affects about 1,250 individuals in the United States. One in every 200,000 individuals is affected by the adult type of osteopetrosis. Higher rates have been found in Brazil. Males and females are affected in equal numbers.

The intermediate type of osteopetrosis is believed to affect males more often than females.

Posted Sep 9, 2017 by lorirdavis 1452
I don't know the answer to this one. Prior to the use of the internet it was hard to find information about it

Posted Sep 28, 2017 by Mary 2550

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I found out I had very dense bones by accident after taking an x-ray for a possible broken wrist. Aside from breaking both knee caps (a year apart) I didn't think much about the disease until I was in my mid 40's. At that time I began having horrific...
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hello, I'm a 16 year old young lady that has had osteopetrosis since I was 6 months old! I had a bone marrow transplant back In 2010 when I was 10 years old, and im getting ready for another one in august🌸 I've broken over 70+ bones! Please pr...

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I'm 66 yrs old with ADO 11 and will soon be looking for orthopedic surgeons who will be willing to explore possibility of total hip replacement due to degenerative osteoarthritis w osteopetrosis.    Know of any specialists on the East Coast of the ...

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