Collagenopathy, types II and XI

Collagenopathy, types II and XI are a group of genetic disorders that primarily affect the connective tissue in the body. These disorders are characterized by abnormalities in the structure and function of collagen, a major protein in the body that provides strength and flexibility to the skin, ligaments, bones, and other tissues.

Types

There are two main types of collagenopathy: type II and type XI.

Type II collagenopathies are caused by mutations in the COL2A1 gene, which provides instructions for making a component of type II collagen. This type of collagen is found mostly in the cartilage and the clear gel that fills the eyeball (vitreous body). Disorders caused by mutations in the COL2A1 gene include Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, and Stickler syndrome.

Type XI collagenopathies are caused by mutations in the COL11A1 or COL11A2 genes, which provide instructions for making components of type XI collagen. This type of collagen is found in the cartilage, the vitreous body, and the inner ear. Disorders caused by mutations in the COL11A1 or COL11A2 genes include Marshall syndrome, Stickler syndrome, and Fibrochondrogenesis.

Symptoms

The symptoms of collagenopathy, types II and XI, can vary widely depending on the specific disorder. However, common symptoms can include short stature, joint pain, hearing loss, and vision problems. Some people with these disorders may also have distinctive facial features, such as a flat face, a small lower jaw, and a cleft palate.

Diagnosis

Diagnosis of collagenopathy, types II and XI, is typically based on a combination of physical examination, medical history, and genetic testing. Imaging tests, such as X-rays or MRI, may also be used to look for abnormalities in the bones and cartilage.

Treatment

There is currently no cure for collagenopathy, types II and XI. Treatment is typically focused on managing symptoms and improving quality of life. This may include physical therapy, pain management, and surgery to correct bone abnormalities.

See also

• Collagen
• Genetic disorder
• Connective tissue