What is osteogenesis imperfecta? Causes of illness in children

Osteogenesis imperfecta is a rare disease with an incidence of about 1 in 20,000. Osteogenesis imperfecta is also known as vitreous bone disease, brittle bone disease. Let’s learn more about this disease with lassho.edu.vn through the following article!

What is osteogenesis imperfecta?

Osteogenesis imperfecta is also called vitreous bone disease or brittle bone disease . This disease is an autosomal dominant genetic disease, which reduces bone quality due to deficiency of collagen and connective tissue.

Children with osteogenesis imperfecta are more likely to experience fractures, bone deformities after only a small impact , or even fractures and fractures after coughing and sneezing.

Osteogenesis imperfecta is also known as vitreous bone disease or brittle bone disease

Causes of osteogenesis imperfecta in children

Childhood osteogenesis imperfecta is a chromosomally inherited disease. Mutations in the gene responsible for collagen production in the human body lead to disorders and loss of bone quality.

Because collagen is one of the components that make up the skeleton of the skeleton, it helps maintain bone strength. If the child has the disease, the collagen will not be enough in quantity or quality, causing the bones to become “crunchy” and more prone to fracture.

Parents with osteogenesis imperfecta have an increased risk of passing it on to their children . In addition, genetic mutations that appear soon after conception are also the cause of brittle bone disease, vitreous bone disease.

Causes of osteogenesis imperfecta in children

Signs and symptoms of osteogenesis imperfecta in children

Children with this disease will experience multiple fractures and multiple fractures at the same time without any strong impact.

Not only that, children suffering from osteogenesis imperfecta also experience bone deformities, deformed faces, barrel-shaped deformed ribcage, crooked spine, underdeveloped small skeleton, making children short and loose. joint.

Some children with this brittle bone disease also have brittle teeth, deformed teeth, blue eyes, hearing loss.

Signs and symptoms of osteogenesis imperfecta in children

Source: Vinmec International General Hospital

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