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

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

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

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

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

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

• Genetic disorder
• SOST
• X-ray
• CT scan

NIH genetic and rare disease info

• NIH info on Hyperostosis Corticalis Generalisata

Hyperostosis Corticalis Generalisata is a rare disease.

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