Leri pleonosteosis
Leri Pleonosteosis
Leri Pleonosteosis (pronounced: leh-ree plee-oh-no-stee-oh-sis) is a rare genetic disorder characterized by the abnormal development of the bones and joints. The term "pleonosteosis" is derived from the Greek words "pleon" meaning more, and "osteosis" meaning bone formation, indicating an overgrowth of bone tissue.
Etymology
The condition is named after the French physician, André Léri, who first described the condition in 1921. The term "pleonosteosis" is derived from the Greek words "pleon" meaning more, and "osteosis" meaning bone formation, indicating an overgrowth of bone tissue.
Symptoms
Symptoms of Leri Pleonosteosis include limited range of motion in the hands and feet, short stature, and distinctive facial features. These symptoms are caused by the overgrowth of bone and joint tissue, leading to joint stiffness and deformities.
Causes
Leri Pleonosteosis is caused by mutations in the FLNB gene. This gene provides instructions for making a protein called filamin B, which is involved in the development and maintenance of the body's cells and tissues.
Diagnosis
Diagnosis of Leri Pleonosteosis is based on a clinical examination, genetic testing, and imaging studies such as X-ray and MRI.
Treatment
Treatment for Leri Pleonosteosis is symptomatic and supportive. It may include physical therapy, pain management, and in some cases, surgery to correct bone deformities.
Related Terms
External links
- Medical encyclopedia article on Leri pleonosteosis
- Wikipedia's article - Leri pleonosteosis
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