Hyperostosis Corticalis Generalisata
Hyperostosis Corticalis Generalisata is a rare genetic disorder characterized by the thickening of the cortical bone. It is also known as Van Buchem disease or Endosteal Hyperostosis, Van Buchem Type.
Overview[edit | edit source]
Hyperostosis Corticalis Generalisata is a condition that primarily affects the skeleton. The main feature of this disorder is excessive growth of the outermost layer of bone, known as the cortical bone. This leads to the thickening of the bones, particularly those in the skull, jaw, and long bones in the arms and legs.
Symptoms[edit | edit source]
The symptoms of Hyperostosis Corticalis Generalisata typically become apparent during childhood or adolescence. The most common symptoms include facial deformity due to enlargement of the jaw and skull, hearing loss, loss of sensation in the facial nerves, and dental problems.
Causes[edit | edit source]
Hyperostosis Corticalis Generalisata is caused by mutations in the SOST gene. This gene provides instructions for making a protein that inhibits bone formation. Mutations in the SOST gene lead to an overgrowth of bone, resulting in the characteristic features of this disorder.
Diagnosis[edit | edit source]
The diagnosis of Hyperostosis Corticalis Generalisata is typically based on the presence of characteristic clinical features and confirmed by genetic testing. Imaging studies such as X-ray and CT scan can also be used to visualize the thickening of the bones.
Treatment[edit | edit source]
There is currently no cure for Hyperostosis Corticalis Generalisata. Treatment is symptomatic and supportive, and may include surgery to relieve pressure on affected nerves, hearing aids for hearing loss, and dental care for dental problems.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Hyperostosis Corticalis Generalisata is a rare disease.
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Contributors: Prab R. Tumpati, MD
