X-linked dominant chondrodysplasia, Chassaing-Lacombe type is a rare genetic disorder that affects the development of bones and cartilage. It is caused by a mutation in the COL2A1 gene, which is located on the X chromosome. Symptoms of this disorder include short stature, joint stiffness, and skeletal abnormalities such as scoliosis, hip dysplasia, and abnormal vertebrae. Affected individuals may also have hearing loss, vision problems, and intellectual disability. Treatment is supportive and may include physical therapy, orthopedic surgery, and hearing aids.

The symptoms of X-linked dominant chondrodysplasia, Chassaing-Lacombe type, include short stature, joint stiffness, and Skeletal abnormalities such as scoliosis, kyphosis, and hip dysplasia. Other symptoms may include facial abnormalities, such as a prominent forehead, a short nose, and a small chin, as well as hearing loss, vision problems, and intellectual disability.

The cause of X-linked dominant chondrodysplasia, Chassaing-Lacombe type is a mutation in the COL9A2 gene. This gene provides instructions for making one component of type IX collagen, which is a protein that helps give structure and strength to connective tissues such as cartilage. Mutations in the COL9A2 gene lead to the production of an abnormal form of type IX collagen, which disrupts the development of cartilage and other connective tissues.

There is no known cure for X-linked dominant chondrodysplasia, Chassaing-Lacombe type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and orthopedic surgery to correct skeletal deformities. Other treatments may include medications to reduce pain and inflammation, and assistive devices such as braces or wheelchairs to help with mobility. Genetic counseling may also be recommended for affected individuals and their families.

1. Being a female with a family history of X-linked dominant chondrodysplasia, Chassaing-Lacombe type.

2. Having a father with X-linked dominant chondrodysplasia, Chassaing-Lacombe type.

3. Having a mother who is a carrier of the gene mutation associated with X-linked dominant chondrodysplasia, Chassaing-Lacombe type.

4. Having a family history of other skeletal disorders.

5. Being of a certain ethnic background, such as French Canadian.

At this time, there is no known cure or medications for X-linked dominant chondrodysplasia, Chassaing-Lacombe type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, orthopedic surgery, and other supportive measures.