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[edit | edit source]
The symptoms of Van Buchem disease typically become apparent in early childhood and may include:
Causes[edit | edit source]
Van Buchem disease is caused by mutations in the SOST gene. This gene provides instructions for making a protein that regulates bone formation.
Diagnosis[edit | edit source]
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[edit | edit source]
There is currently no cure for Van Buchem disease. Treatment is directed toward the specific symptoms that are apparent in each individual.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
