Stickler syndrome type 2 is a rare genetic disorder that affects the connective tissues in the body. It is caused by a mutation in the COL2A1 gene, which is responsible for producing collagen, a protein that helps give structure to the body's tissues. Symptoms of Stickler syndrome type 2 include hearing loss, vision problems, joint problems, and skeletal abnormalities.

The symptoms of Stickler Syndrome type 2 vary from person to person, but may include:

-Mild to moderate hearing loss
-Mild to moderate vision problems, including nearsightedness, farsightedness, and astigmatism
-Cleft palate
-Joint problems, including early-onset arthritis
-Facial features such as a small lower jaw, a flat midface, and a short nose
-High, arched palate
-Crowded teeth
-Enlarged tonsils and adenoids
-Frequent ear infections
-Speech and language delays
-Heart defects
-Kidney and urinary tract problems
-Growth delays

Stickler syndrome type 2 is caused by mutations in the COL11A2 gene. This gene provides instructions for making one component of a protein called type XI collagen. This protein is important for the normal development of bones and other connective tissues. Mutations in the COL11A2 gene lead to the production of an abnormal type XI collagen protein, which disrupts the development of bones and other connective tissues.

The treatments for Stickler Syndrome type 2 vary depending on the severity of the condition and the individual's symptoms. Generally, treatments may include:

1. Surgery: Surgery may be necessary to correct any eye, ear, or joint problems.

2. Vision correction: Vision correction may be necessary to improve vision. This may include glasses, contact lenses, or surgery.

3. Hearing aids: Hearing aids may be necessary to improve hearing.

4. Physical therapy: Physical therapy may be necessary to improve joint mobility and strength.

5. Speech therapy: Speech therapy may be necessary to improve communication skills.

6. Genetic counseling: Genetic counseling may be necessary to help individuals and families understand the condition and its implications.

7. Medications: Medications may be necessary to manage pain and inflammation.

1. Family history of Stickler syndrome
2. Maternal age over 35
3. Mutations in the COL2A1 gene
4. Mutations in the COL11A1 gene
5. Mutations in the COL11A2 gene
6. Mutations in the COL9A1 gene
7. Mutations in the COL9A2 gene
8. Mutations in the COL9A3 gene
9. Mutations in the COL11A3 gene
10. Mutations in the COL11A4 gene

There is no cure for Stickler Syndrome type 2, but there are medications that can help manage the symptoms. These include non-steroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation and pain, corticosteroids to reduce inflammation, and medications to reduce the risk of vision loss. Surgery may also be recommended to correct joint problems or vision problems.