Some types have a mild effect on the bones while others cause severe deformities.
About half of patients with brittle bone disease are diagnosed with type 1.
Osteogenesis imperfecta, also known as brittle bone disease, is a genetic bone disorder. A baby born with this rare bone condition usually has fragile bones. Their bones do not form properly and can lead to fractures at a young age. There are at least eight types of osteogenesis imperfecta that differ in inheritance and type of symptoms. Some types have a mild effect on the bones while others cause severe deformities. The most common type of bone disorder is type 1 which is the mildest. About half of patients with brittle bone disease are diagnosed with type 1. In this, children are more prone to fractures which can be easily repaired. Other types are quite rare and more severe than type 1.
Let us know everything about this rare bone disorder.
due to osteogenesis imperfecta
The disease is very rare and is passed on through genes. The type of disease varies with the inheritance of the disease. A newborn baby can get the disease from one parent or both. Not only this, it can also happen due to gene mutation for unknown reasons.
The disease damages collagen, which is the connective tissue that provides support to the entire body. The tissue also connects the bones and helps them to gain strength. In this condition, the body does not produce enough collagen due to which they lose strength and become fragile.
symptoms of osteogenesis imperfecta
Since symptoms vary with the type of disease, some of them remain common to all types.
- fragile bones that can break easily
- bone deformity
- the sclera, the white part of the eye, loses color and turns blue or gray
- round chest
- curved spine
- breakable joint
- weak muscles
- tender skin, prone to bruising
- hearing loss at a young age
- yellowing of teeth
- diagnosis of osteogenesis imperfecta
Bone disorders can be detected using common medical tests such as X-rays and dual energy X-ray absorptiometry scans. Blood, skin and saliva samples are also taken to diagnose the disease. Another way to diagnose the disease is by biopsy which can be painful compared to other tests.
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