Van Buchem disease

Van Buchem disease is a rare genetic disorder characterized by excessive bone growth, particularly in the jaw and skull. The disease is also known as hyperostosis corticalis generalisata.

Symptoms

The symptoms of Van Buchem disease typically become apparent in early childhood and may include:

• Facial deformity
• Hearing loss
• Vision problems
• Headache
• Nerve compression

Causes

Van Buchem disease is caused by mutations in the SOST gene. This gene provides instructions for making a protein that regulates bone formation.

Diagnosis

Diagnosis of Van Buchem disease is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.

Treatment

There is currently no cure for Van Buchem disease. Treatment is directed toward the specific symptoms that are apparent in each individual.

See also

• Genetic disorder
• Bone disease
• SOST gene

References

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