Osteosclerosis congenita

Osteosclerosis Congenita is a rare, inherited bone disorder characterized by an increase in bone density. It is also known as Albers-Schönberg disease and is a type of osteopetrosis.

Etiology

Osteosclerosis Congenita is caused by mutations in the CLCN7 gene. This gene provides instructions for making a protein that is involved in the breakdown and reformation of bones. Mutations in the CLCN7 gene disrupt this process, leading to abnormally dense, brittle bones.

Symptoms

The symptoms of Osteosclerosis Congenita can vary widely, even among members of the same family. Common symptoms include recurrent bone fractures, short stature, dental abnormalities, and anemia. Some individuals may also have vision or hearing loss due to the compression of nerves.

Diagnosis

Diagnosis of Osteosclerosis Congenita is typically made through a combination of clinical examination, family history, and imaging studies such as X-rays or CT scans. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Osteosclerosis Congenita. Treatment is focused on managing symptoms and preventing complications. This may include physical therapy, pain management, and surgical intervention for fractures or other bone abnormalities.

Prognosis

The prognosis for individuals with Osteosclerosis Congenita varies depending on the severity of symptoms. Some individuals may have a normal lifespan with few complications, while others may experience significant health problems.

See Also

• Osteopetrosis
• Bone density
• Genetic disorder

References

• National Institutes of Health
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on Osteosclerosis congenita

Osteosclerosis congenita is a rare disease.

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