Brittle bone syndrome – or osteogenesis or osteogenesis imperfecta, as its scientific name is – has long gained visibility on social networks. But little is known about this condition.
To begin to clarify doubts, an article on the Medlineplus website explains that the people who present it have their ownThey are weak bones and they usually develop a shorter than average height.
Many times the trigger for its diagnosis is constant fractures. Furthermore, depending on the degree of the disease, it may present the following manifestations:
- Blue tint to the whites of the eyes (blue sclera).
- Early hearing loss (deafness).
- Flexible joints (hypermobility) and flat feet.
Brittle bone syndrome can occur in different degrees Photo: Shutterstock.- Scoliosis.
- Arms and legs bent.
What causes brittle bone syndrome?
It is often caused by a defect in a gene that produces type I collagen, which is one of the body’s key building blocks bone formation.
The search for a diagnosis arises in childhood from suspicions about it repeated fractures. From there you can make a diagnosis with a skin biopsy and a DNA blood test on family members.
On the other hand, if there is a family history of this condition, a chorionic villus sample may be taken during pregnancy to determine whether the baby will suffer from this condition. Also, severe forms can be detected with an ultrasound at the 16th week of gestation.
What is the life expectancy
The Medlineplus report makes it clear that life expectancy will depend on the degree of manifestation of this syndrome. In severe forms, death may occur during the first year of life or major bone deformities may occur in later years.
While in mild or moderate situations, the person will have full and independent development.
How is the treatment
Although there is no cure for this disease yet, specific therapies will reduce pain and associated complications.
Swimming can help people with brittle bone syndrome Photo: Shutterstock.Kinesiology and low-impact exercises, as directed by a professional, can help maintain strong muscles and bones.
Another option is specific medications that reduce pain and fracture rates.
In more serious cases, the possibility of surgery to position the metal rods will be considered.
Source: Clarin
Mary Ortiz is a seasoned journalist with a passion for world events. As a writer for News Rebeat, she brings a fresh perspective to the latest global happenings and provides in-depth coverage that offers a deeper understanding of the world around us.