Sclerosteosis
Sclerosteosis
Sclerosteosis (/sklɛroʊstiːˈoʊsɪs/) is a rare genetic disorder characterized by abnormal bone growth.
Etymology
The term "Sclerosteosis" is derived from the Greek words "skleros" meaning hard, and "osteon" meaning bone.
Definition
Sclerosteosis is a genetic disorder that leads to an overgrowth of bone, particularly in the skull and fingers. This can lead to a range of symptoms, including facial distortion, hearing loss, and problems with nerve function.
Symptoms
Symptoms of Sclerosteosis can vary, but often include:
- Facial distortion
- Hearing loss
- Problems with nerve function
- Increased bone density
- Overgrowth of the skull and fingers
Causes
Sclerosteosis is caused by mutations in the SOST gene. This gene provides instructions for making a protein that regulates bone formation and bone cell survival. Mutations in the SOST gene disrupt these processes, leading to the overgrowth of bone seen in Sclerosteosis.
Diagnosis
Diagnosis of Sclerosteosis is typically based on physical examination, medical history, and genetic testing to identify mutations in the SOST gene.
Treatment
There is currently no cure for Sclerosteosis. Treatment is focused on managing symptoms and improving quality of life. This may include surgery to relieve pressure on the brain and nerves, hearing aids to manage hearing loss, and physical therapy to improve mobility.
Related Terms
External links
- Medical encyclopedia article on Sclerosteosis
- Wikipedia's article - Sclerosteosis
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