Bone cartilage dysplasia

Bone cartilage dysplasia's disease overview

What is

What is bone cartilage disorder?

During the development process, the normal bone of the normal person is made up of cartilage during the fetus, cartilage converts into bone during the bone.

Bone cartilage dysplasia is a condition of bone growth disorders, in which the healthy bone tissue is replaced by fibrous tissue that weakens the deformed and brittle bones. This is a form of pituitary dwarf with ¾ of the case caused by bone cartilage disorders.

Causes of Bone cartilage dysplasia's disease

  • Bone cartilage dysplasia is a disease associated with gene and genetic mutations in the family. Many studies show that bone cartilage disorders are associated with FGFR3 gene mutations. This is a gene that stimulates the body to produce the proteins necessary for bone growth and maturity. The FGFR3 gene mutation makes the production of proteins changes leading to the growth and growth of the bone disordered, most of the cartilage is not capable of converting into bones.
  • Bone cartilage disorder is related to genetic associated. About 50% of parents have genetic abnormalities that cause disease.

    • About 80% of the disease is caused by a non -genetic cause.

    Symptoms of Bone cartilage dysplasia's disease

    For patients with mild bone cartilage disorders almost no symptoms. For people with severe illness, the common symptoms of bone cartilage disorders include:

  • Bone pain is the most typical and most common symptom in all cases, the patient shows signs of pain, bone deformation, difficulty walking, pathological fractures. >
  • Damage in many bones causes affecting the travel, moving activities, narrowing of the spine, causing pulp pinch, scoliosis, hunchback, low stature Baby significantly compared to people of the same age.
  • Damage in the face causes deformation of the face of the face, the head is bigger than the body, the abnormal large forehead, the occipital bones and the temporal bone are transformed The form of compression of nerves causes vestibular disorders, affecting the smell.

    • Some symptoms related to bone marrow dysplasia such as hydrocephalus, obesity, spinal pipes are narrowed or miniature day by day.

    A dangerous complication of bone cartilage disorders is a complication of the femur fracture because the bone is inadequate, causing pain and danger to the child. 

    People at risk for Bone cartilage dysplasia's disease

    Bone cartilage dysplasia is a very common disease that can occur in all subjects and all ages. The disease usually occurs in teenagers from 3 to 15 years old with the incidence of diseases in men with the same woman.

    Prevention of Bone cartilage dysplasia's disease

    In adults to prevent bone cartilage disorders, a diet and diet, exercise, and obesity control. Whenever the symptoms appear to be immediately visited at the empire medical facility, it is diagnosed and treated early effectively.

    Diagnostic measures for Bone cartilage dysplasia's disease

    The diagnosis of bone cartilage disorders can be diagnosed right during pregnancy and immediately after birth based on diagnostic methods:

  • Through ultrasound tests during pregnancy, the image of the fetus has a hydrocephalus image and the abnormal image of the fetus that helps to beat and orient the disease.
  • amniocentesis test for testing or taking blood after giving birth to a gene test helps find abnormalities for FGFR3 gene to enhance diagnostic judgment. After birth can be diagnosed with imaging methods such as X -ray, MRI, CT, magnetic resonance with evaluation of bone lesions, patiently fractured fractures. The bone detection of bones consists of mature bone and bone tissue with irregular shapes, many cartilage ...

    • Bone cartilage dysplasia's disease treatments

    Currently, the treatment of bone dysplasia has no thorough treatment. The treatment needs to be combined with closely monitoring to achieve the best treatment effect.

  • Treatment of symptoms on how to use drugs such as non -steroid anti -inflammatory help relieve bone pain. In addition, growth hormone can be used to treat children. Final repair of bent legs.

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