Bruck syndrome

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Bruck Syndrome

Bruck syndrome (/brʊk/; from the German word "bruch", meaning "fracture") is a rare genetic disorder characterized by the presence of osteogenesis imperfecta (brittle bone disease) and arthrogryposis (joint contractures).

Etymology

The term "Bruck syndrome" is named after the German physician who first described the condition in the medical literature in the 20th century. The word "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Symptoms

The primary symptoms of Bruck syndrome include bone fragility, joint contractures, and muscle weakness. Other symptoms may include scoliosis, hearing loss, and blue sclerae.

Causes

Bruck syndrome is caused by mutations in the FKBP10 or PLOD2 genes. These genes are involved in the production of collagen, a protein that provides structure and strength to the body's tissues.

Diagnosis

Diagnosis of Bruck syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the FKBP10 or PLOD2 genes.

Treatment

Treatment for Bruck syndrome is supportive and aims to manage symptoms. This may include physical therapy, surgery to correct bone deformities, and medication to manage pain.

Prognosis

The prognosis for individuals with Bruck syndrome varies. Some individuals may have a normal lifespan with appropriate management, while others may experience severe complications.

See also

External links

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